Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CSMD3 114788 broad.mit.edu 37 8 113694836 113694836 + Nonsense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr8:113694836C>A ENST00000297405.5 - 16 2756 c.2512G>T c.(2512-2514)Gga>Tga p.G838* CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G734*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G838*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G798* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 838 Sushi 4. integral to membrane|plasma membrane p.G838*(1)|p.G798*(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATTGGTATTCCAGGATCAGGG 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 68 1.17739e-12 1.57292e-12 0.005443 1 0 DIP2B 57609 broad.mit.edu 37 12 51065071 51065071 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr12:51065071G>A ENST00000301180.5 + 5 564 c.530G>A c.(529-531)cGt>cAt p.R177H NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 177 Ser-rich. nucleus catalytic activity|transcription factor binding p.R177H(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 TGGATCAACCGTTCAATTCAG 0.527000 17 112 0 0 0.004007 0 0 FRG1B 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 3 79 0 0 0.003080 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 219 0 0 0.000602 0 0 TYW1B 441250 broad.mit.edu 37 7 72081774 72081774 + RNA SNP A A G rs3015854 by1000genomes TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr7:72081774A>G ENST00000438125.1 - 0 1281 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GCCAGGGCACATGGGCCATGG 0.493000 7 77 0 0 0.001984 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 87 0 0 0.000248 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496622 20496622 + RNA SNP A A T rs2601530 by1000genomes TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr15:20496622A>T ENST00000555186.1 + 0 675 NR_038836.1 AAGTGGCCTCATGAAGGGGAA 0.438000 22 188 0 0 0.001523 0 0 DBT 1629 broad.mit.edu 37 1 100676288 100676288 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:100676288C>A ENST00000370132.3 - 8 992 c.979G>T c.(979-981)Gct>Tct p.A327S DBT_ENST00000370131.3_3'UTR NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 327 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding p.A327T(1)|p.A327S(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) TCCACAGAAGCGTTAAGGATA 0.338000 20 75 1.50039e-11 1.97359e-11 0.001882 1 0 HTR2C 3358 broad.mit.edu 37 X 113965913 113965913 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:113965913G>T ENST00000276198.1 + 4 974 c.246G>T c.(244-246)aaG>aaT p.K82N HTR2C_ENST00000371951.1_Missense_Mutation_p.K82N|HTR2C_ENST00000371950.3_Missense_Mutation_p.K82N NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 82 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity p.K82N(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) GCATGGAAAAGAAACTGCACA 0.448000 4 118 2.56e-06 2.99836e-06 0.000248 1 0 GABRR1 2569 broad.mit.edu 37 6 89888768 89888768 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr6:89888768G>T ENST00000435811.1 - 9 1564 c.1110C>A c.(1108-1110)agC>agA p.S370R GABRR1_ENST00000369451.3_Missense_Mutation_p.S300R|GABRR1_ENST00000454853.2_Missense_Mutation_p.S387R NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 387 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.S381R(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) GAGGTAATCCGCTGGTGCAGG 0.542000 11 21 1.08611e-07 1.31719e-07 0.000978 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 62 0 0 0.001168 0 0 LRP1B 53353 broad.mit.edu 37 2 141709451 141709451 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:141709451G>T ENST00000389484.3 - 19 3917 c.2946C>A c.(2944-2946)agC>agA p.S982R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 982 LDL-receptor class A 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.S982R(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCCATTTGCTGCTAATGCATC 0.443000 TSP Lung(27;0.18) 20 31 7.92952e-12 1.05112e-11 0.003954 1 0 PCDHB18P 54660 broad.mit.edu 37 5 140616088 140616088 + RNA SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr5:140616088C>A ENST00000526308.1 + 0 2151 NR_001281.1 p.A601A(1) endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 CGCGCTCGGCCACCGCCACGC 0.716000 4 38 1.23904e-05 1.43159e-05 0.000602 1 0 PKD1L1 168507 broad.mit.edu 37 7 47894610 47894610 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr7:47894610C>A ENST00000289672.2 - 30 4779 c.4729G>T c.(4729-4731)Gta>Tta p.V1577L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1577 cell-cell adhesion integral to membrane p.V1577L(1) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CGAAGTAATACAAATGTCGTT 0.348000 18 60 5.01169e-05 5.71333e-05 0.004990 1 0 POTEC 388468 broad.mit.edu 37 18 14542693 14542693 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr18:14542693C>T ENST00000358970.5 - 1 452 c.453G>A c.(451-453)aaG>aaA p.K151K POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 151 p.K151K(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTCTGGGGACCTTACCCCACC 0.592000 6 171 0 0 0.008291 0 0 LOC653786 653786 broad.mit.edu 37 16 22588015 22588015 + RNA SNP A A G rs460493 by1000genomes TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr16:22588015A>G ENST00000550753.1 + 0 2490 NR_003676.2 TGGCCTGAGCACATCGTCCTG 0.557000 4 165 0 0 0.001855 0 0 ZNF254 9534 broad.mit.edu 37 19 24310436 24310436 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:24310436C>G ENST00000357002.4 + 4 1749 c.1634C>G c.(1633-1635)cCc>cGc p.P545R ZNF254_ENST00000342944.6_Missense_Mutation_p.P460R NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 545 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P545R(1) all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) GAAGAGAAACCCTACAAATGT 0.363000 13 26 0 0 0.001368 0 0 TTN 7273 broad.mit.edu 37 2 179614601 179614601 + Missense_Mutation SNP T T A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:179614601T>A ENST00000360870.5 - 46 12748 c.12526A>T c.(12526-12528)Atc>Ttc p.I4176F TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3520 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAAGAATGATGGAATCCCCT 0.373000 22 45 0 0 0.001882 0 0 SNX24 28966 broad.mit.edu 37 5 122281813 122281813 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr5:122281813G>A ENST00000261369.4 + 3 393 c.208G>A c.(208-210)Gtc>Atc p.V70I SNX24_ENST00000513881.1_Missense_Mutation_p.V70I|SNX24_ENST00000506996.1_Missense_Mutation_p.V70I|SNX24_ENST00000395451.4_Missense_Mutation_p.V103I|SNX24_ENST00000511211.1_3'UTR NM_014035.2 NP_054754.1 Q9Y343 SNX24_HUMAN sorting nexin 24 70 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding p.V70I(1) lung(5) 5 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) GGTCCCCAAAGTCTTGGAACA 0.323000 7 41 0 0 0.004482 0 0 UNC13C 440279 broad.mit.edu 37 15 54793103 54793103 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr15:54793103G>A ENST00000545554.1 + 21 5228 c.5228G>A c.(5227-5229)aGc>aAc p.S1743N UNC13C_ENST00000260323.11_Missense_Mutation_p.S1743N|UNC13C_ENST00000537900.1_Missense_Mutation_p.S1741N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1743 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.S1743N(2) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTGAATCAGAGCTTTGAAATT 0.408000 13 100 0 0 0.002450 0 0 TCF4 6925 broad.mit.edu 37 18 52901847 52901847 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr18:52901847G>T ENST00000354452.3 - 16 2029 c.1418C>A c.(1417-1419)cCg>cAg p.P473Q TCF4_ENST00000544241.2_Missense_Mutation_p.P402Q|TCF4_ENST00000561992.1_Missense_Mutation_p.P343Q|TCF4_ENST00000356073.4_Missense_Mutation_p.P473Q|TCF4_ENST00000537856.3_Missense_Mutation_p.P343Q|TCF4_ENST00000567880.1_Missense_Mutation_p.P413Q|TCF4_ENST00000565018.2_Missense_Mutation_p.P473Q|TCF4_ENST00000561831.3_Missense_Mutation_p.P313Q|TCF4_ENST00000398339.1_Missense_Mutation_p.P575Q|TCF4_ENST00000540999.1_Missense_Mutation_p.P449Q|TCF4_ENST00000564228.1_Missense_Mutation_p.P402Q|TCF4_ENST00000564999.1_Missense_Mutation_p.P473Q|TCF4_ENST00000568673.1_Missense_Mutation_p.P449Q|TCF4_ENST00000570177.2_Missense_Mutation_p.P343Q|TCF4_ENST00000566286.1_Missense_Mutation_p.P470Q|TCF4_ENST00000543082.1_Missense_Mutation_p.P431Q|TCF4_ENST00000537578.1_Missense_Mutation_p.P449Q|TCF4_ENST00000568740.1_Missense_Mutation_p.P448Q|TCF4_ENST00000564403.2_Missense_Mutation_p.P479Q|TCF4_ENST00000457482.3_Missense_Mutation_p.P313Q|TCF4_ENST00000570287.2_Missense_Mutation_p.P313Q|TCF4_ENST00000566279.1_Missense_Mutation_p.P413Q NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 473 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding p.P575Q(1)|p.P473Q(1) breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) CTGTGGAACCGGAACCTGGTT 0.597000 OREG0024990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 60 1.01871e-10 1.3197e-10 0.008871 1 0 AFF2 2334 broad.mit.edu 37 X 147924509 147924509 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:147924509C>T ENST00000370460.2 + 6 1672 c.1193C>T c.(1192-1194)cCa>cTa p.P398L AFF2_ENST00000342251.3_Missense_Mutation_p.P365L|AFF2_ENST00000370457.5_Missense_Mutation_p.P365L|AFF2_ENST00000286437.5_Missense_Mutation_p.P39L|AFF2_ENST00000370458.1_Missense_Mutation_p.P365L NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 398 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.P398L(2)|p.P39L(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CATCTGACCCCAGGATTCACC 0.348000 36 145 0 0 0.003271 0 0 SLC41A1 254428 broad.mit.edu 37 1 205760707 205760707 + Missense_Mutation SNP T T A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:205760707T>A ENST00000367137.3 - 11 2510 c.1496A>T c.(1495-1497)cAt>cTt p.H499L SLC41A1_ENST00000468057.1_5'UTR NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 499 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity p.H499L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) CCAGAGAACATGGAAGCTGAG 0.552000 OREG0014162 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 37 0 0 0.000248 0 0 ACTR3B 57180 broad.mit.edu 37 7 152549330 152549330 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr7:152549330G>A ENST00000256001.8 + 10 1205 c.1071G>A c.(1069-1071)agG>agA p.R357R ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000397282.2_Silent_p.R269R|ACTR3B_ENST00000537264.1_Silent_p.R269R NM_020445.5 NP_065178.1 Q9P1U1 ARP3B_HUMAN ARP3 actin-related protein 3 homolog B (yeast) 357 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding p.R357R(1) breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 13 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) GCGGCGGGAGGATCAAGGTAG 0.637000 12 38 0 0 0.001368 0 0 UBR4 23352 broad.mit.edu 37 1 19448475 19448475 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:19448475G>A ENST00000375267.2 - 67 9851 c.9848C>T c.(9847-9849)gCc>gTc p.A3283V UBR4_ENST00000375254.3_Missense_Mutation_p.A3283V|UBR4_ENST00000375217.2_Missense_Mutation_p.A3276V|UBR4_ENST00000375226.2_Missense_Mutation_p.A3259V Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3283 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding p.A3283V(1) breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCGCTGGGCGGCAATCTCTGC 0.478000 3 30 0 0 0.004672 0 0 FRG1B 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 6 70 0 0 0.008291 0 0 GPR137B 7107 broad.mit.edu 37 1 236343183 236343183 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:236343183C>T ENST00000366592.3 + 4 783 c.692C>T c.(691-693)tCc>tTc p.S231F GPR137B_ENST00000366591.4_Missense_Mutation_p.S140F NM_003272.3 NP_003263.1 O60478 G137B_HUMAN G protein-coupled receptor 137B 231 integral to plasma membrane|membrane fraction p.S231F(1)|p.S140F(1) endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TTCCAGGGCTCCTCCGTGTGT 0.547000 59 151 0 0 0.003610 0 0 KCTD2 23510 broad.mit.edu 37 17 73045381 73045381 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr17:73045381C>T ENST00000322444.6 + 2 412 c.406C>T c.(406-408)Cgc>Tgc p.R136C KCTD2_ENST00000584767.1_3'UTR|KCTD2_ENST00000581589.1_5'UTR NM_015353.1 NP_056168.1 Q14681 KCTD2_HUMAN potassium channel tetramerization domain containing 2 136 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity p.R136C(1) kidney(1)|lung(2) 3 all_lung(278;0.226) CAACTACCTCCGCCACGGGAA 0.468000 8 84 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179432140 179432140 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:179432140C>A ENST00000589042.1 - 326 78943 c.78719G>T c.(78718-78720)tGt>tTt p.C26240F TTN_ENST00000460472.2_Missense_Mutation_p.C17175F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C23672F|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C17300F|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C17367F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.C24599F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24599 Fibronectin type-III 91. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.C17367F(1)|p.C23672F(1)|p.C23670F(1)|p.C17175F(1)|p.C17300F(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTATTTCACATCTAGCAGA 0.388000 61 159 4.32865e-36 6.0672e-36 0.003610 1 0 USP7 7874 broad.mit.edu 37 16 8993490 8993490 + Missense_Mutation SNP T T A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr16:8993490T>A ENST00000344836.4 - 22 2632 c.2434A>T c.(2434-2436)Acg>Tcg p.T812S USP7_ENST00000381886.4_Missense_Mutation_p.T796S|USP7_ENST00000535863.1_Missense_Mutation_p.T713S NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 812 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.T812S(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 TTTGATAACGTAACCACAAAT 0.363000 37 79 0 0 0.005524 0 0 ZBTB24 9841 broad.mit.edu 37 6 109802316 109802316 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr6:109802316T>C ENST00000230122.3 - 2 1081 c.914A>G c.(913-915)tAc>tGc p.Y305C NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.Y305C(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) AAAGTGATTGTACTTAAAGAC 0.473000 46 103 0 0 0.003610 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48848037 48848037 + Silent SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:48848037G>T ENST00000394754.1 + 4 2295 c.2181G>T c.(2179-2181)cgG>cgT p.R727R STON1-GTF2A1L_ENST00000405008.1_Silent_p.R727R|GTF2A1L_ENST00000403751.3_Silent_p.R23R|STON1-GTF2A1L_ENST00000402114.2_Silent_p.R727R|STON1-GTF2A1L_ENST00000394751.3_Silent_p.R727R|STON1-GTF2A1L_ENST00000309827.2_Silent_p.R727R|GTF2A1L_ENST00000468326.1_3'UTR|GTF2A1L_ENST00000430487.2_Intron NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 727 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex p.R727R(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAGGAGTTCGGAATCTATTTG 0.289000 13 44 0.00316338 0.00353554 0.003163 1 0 PRDM2 7799 broad.mit.edu 37 1 14142945 14142945 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:14142945G>A ENST00000235372.7 + 9 5916 c.5060G>A c.(5059-5061)cGa>cAa p.R1687Q PRDM2_ENST00000376048.5_Missense_Mutation_p.D179N|PRDM2_ENST00000503842.1_Missense_Mutation_p.D15N|PRDM2_ENST00000505823.1_Missense_Mutation_p.D15N NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1687 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R1687Q(1) endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TTGGCGTCCCGATGCTCTCCA 0.587000 19 38 0 0 0.001882 0 0 STRC 161497 broad.mit.edu 37 15 43892287 43892287 + Nonsense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr15:43892287G>A ENST00000450892.2 - 28 5187 c.5110C>T c.(5110-5112)Caa>Taa p.Q1704* STRC_ENST00000541030.1_Nonsense_Mutation_p.Q931* NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1704 sensory perception of sound cell surface p.Q1704*(1) skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CTAGATAGTTGGATGGGACTA 0.557000 17 35 0 0 0.007413 0 0 PRB3 5544 broad.mit.edu 37 12 11420396 11420396 + RNA SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr12:11420396G>T ENST00000381842.3 - 0 698 PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding p.R221S(4) breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TTTCCTGGACGAGGTGGGGGA 0.592000 114 332 7.48799e-53 1.06704e-52 0.003610 1 0 GPRASP2 114928 broad.mit.edu 37 X 101969872 101969872 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:101969872G>A ENST00000543253.1 + 5 994 c.75G>A c.(73-75)ggG>ggA p.G25G GPRASP2_ENST00000535209.1_Silent_p.G25G|GPRASP2_ENST00000332262.5_Silent_p.G25G NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 p.G25G(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 TTATCGCTGGGCCTGAGAGAG 0.542000 46 100 0 0 0.002522 0 0 CHST12 55501 broad.mit.edu 37 7 2473023 2473023 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr7:2473023G>A ENST00000258711.6 + 2 884 c.749G>A c.(748-750)cGc>cAc p.R250H NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 250 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding p.R250H(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CCCTTCGTGCGCCTGATCTCC 0.602000 11 65 0 0 0.001368 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 5 56 0 0 0.000602 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 3 66 0 0 0.001984 0 0 KEAP1 9817 broad.mit.edu 37 19 10610285 10610285 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:10610285G>A ENST00000171111.5 - 2 972 c.425C>T c.(424-426)aCg>aTg p.T142M KEAP1_ENST00000393623.2_Missense_Mutation_p.T142M NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 142 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.T142M(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GATGGAGGCCGTGTAGGCGAA 0.587000 17 22 0 0 0.004990 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769002 31769002 + Nonsense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:31769002G>T ENST00000240587.4 - 2 2024 c.1697C>A c.(1696-1698)tCg>tAg p.S566* NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 566 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S566*(1)|p.S383*(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CTTCCCCGACGAGCCCAGGGA 0.587000 38 56 1.67305e-13 2.25269e-13 0.006230 1 0 NPLOC4 55666 broad.mit.edu 37 17 79580446 79580446 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr17:79580446G>A ENST00000374747.5 - 4 413 c.284C>T c.(283-285)cCg>cTg p.P95L NPLOC4_ENST00000331134.6_Missense_Mutation_p.P95L|NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000539314.1_5'UTR Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 95 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding p.P95L(1) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TTTGAAGCCCGGTGGAACTGA 0.517000 33 29 0 0 0.003271 0 0 AR 367 broad.mit.edu 37 X 66863200 66863200 + Silent SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:66863200A>T ENST00000374690.3 + 2 2243 c.1719A>T c.(1717-1719)ggA>ggT p.G573G AR_ENST00000396044.3_Silent_p.G573G|AR_ENST00000504326.1_Silent_p.G573G|AR_ENST00000396043.2_Silent_p.G41G|AR_ENST00000513847.1_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 572 Interaction with HIPK3 (By similarity). A -> D (in AIS; defective DNA binding and transactivation). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.G573G(1)|p.G383G(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) GTCACTATGGAGCTCTCACAT 0.493000 Androgen Insensitivity Syndrome 21 57 0 0 0.001523 0 0 RP1L1 94137 broad.mit.edu 37 8 10470626 10470626 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr8:10470626G>A ENST00000382483.3 - 4 1205 c.982C>T c.(982-984)Cgc>Tgc p.R328C NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 328 intracellular signal transduction p.R328C(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGGTGGAAGCGGACTTTCATC 0.657000 31 52 0 0 0.001786 0 0 AMICA1 120425 broad.mit.edu 37 11 118081271 118081271 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:118081271G>A ENST00000292067.7 - 3 766 c.325C>T c.(325-327)Cgc>Tgc p.R109C AMICA1_ENST00000526620.1_Missense_Mutation_p.R80C|AMICA1_ENST00000356289.5_Missense_Mutation_p.R119C|AMICA1_ENST00000533261.1_Missense_Mutation_p.R119C NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 119 Ig-like V-type 1. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane p.R109C(1) central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCTTTGAGGCGGATTTCACAG 0.522000 28 88 0 0 0.008361 0 0 PLXNA3 55558 broad.mit.edu 37 X 153696766 153696766 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:153696766G>A ENST00000369682.3 + 23 4259 c.4084G>A c.(4084-4086)Ggc>Agc p.G1362S NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1362 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.G1362S(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCGCGACCGCGGCACCGTGGC 0.667000 6 34 0 0 0.001168 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127332 45127332 + RNA SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr17:45127332G>A ENST00000575173.1 - 0 418 ACTCGCTCCCGCATGACCCAC 0.418000 5 216 0 0 0.001168 0 0 MN1 4330 broad.mit.edu 37 22 28194109 28194109 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr22:28194109C>G ENST00000302326.4 - 1 3377 c.2423G>C c.(2422-2424)gGc>gCc p.G808A NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 808 binding p.G808A(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GTTGAAGGAGCCCAGCGAGAG 0.677000 T ETV6 """AML, meningioma""" 22 39 0 0 0.001523 0 0 LRRC66 339977 broad.mit.edu 37 4 52861066 52861066 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr4:52861066C>A ENST00000343457.3 - 4 2128 c.2122G>T c.(2122-2124)Ggg>Tgg p.G708W NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 708 integral to membrane p.E707_G708>DW(1) central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 AACAGAGACCCCTCATCAGAG 0.532000 31 61 1.80694e-10 2.30588e-10 0.001786 1 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26240191 26240191 + Splice_Site SNP C C A rs112694138 TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr7:26240191C>A ENST00000354667.4 - 1 175 c.e1+1 HNRNPA2B1_ENST00000356674.7_Splice_Site NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding p.?(2) HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 AAACCCGTTACCTCCATCGCG 0.607000 T ETV1 prostate 18 133 8.34094e-07 9.90486e-07 0.008871 1 0 DDO 8528 broad.mit.edu 37 6 110714107 110714107 + Silent SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr6:110714107A>T ENST00000368924.3 - 5 996 c.981T>A c.(979-981)ccT>ccA p.P327P DDO_ENST00000368923.3_Silent_p.P268P|DDO_ENST00000368925.1_Silent_p.P299P NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 299 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity p.P327P(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) GGTGGACTACAGGCAGCCTCT 0.637000 28 35 0 0 0.004656 0 0 TPCN1 53373 broad.mit.edu 37 12 113717996 113717996 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr12:113717996C>T ENST00000550785.1 + 16 1723 c.1554C>T c.(1552-1554)ttC>ttT p.F518F TPCN1_ENST00000335509.6_Silent_p.F446F|TPCN1_ENST00000392569.4_Silent_p.F378F|TPCN1_ENST00000541517.1_Silent_p.F518F NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 446 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity p.F446F(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 TCCAGTATTTCATGTGTAAGT 0.423000 13 49 0 0 0.001855 0 0 NLGN4X 57502 broad.mit.edu 37 X 5821249 5821249 + Silent SNP A A G rs9785509 TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:5821249A>G ENST00000381095.3 - 5 2097 c.1470T>C c.(1468-1470)ggT>ggC p.G490G NLGN4X_ENST00000538097.1_Silent_p.G490G|NLGN4X_ENST00000381093.2_Silent_p.G510G|NLGN4X_ENST00000275857.6_Silent_p.G490G|NLGN4X_ENST00000381092.1_Silent_p.G490G NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 490 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.G490G(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GGACCTCATCACCATGGGCCG 0.567000 24 38 0 0 0.003271 0 0 LSM14A 26065 broad.mit.edu 37 19 34712504 34712504 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:34712504G>A ENST00000544216.3 + 9 1306 c.1229G>A c.(1228-1230)aGa>aAa p.R410K LSM14A_ENST00000540746.2_Missense_Mutation_p.R369K|LSM14A_ENST00000433627.5_Missense_Mutation_p.R410K NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 410 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule p.R410K(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) GGGGGATACAGAGGCAGAGGA 0.537000 12 32 0 0 0.001855 0 0 KCNK10 54207 broad.mit.edu 37 14 88693778 88693778 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr14:88693778C>G ENST00000340700.5 - 4 1058 c.607G>C c.(607-609)Gga>Cga p.G203R KCNK10_ENST00000312350.5_Missense_Mutation_p.G208R|KCNK10_ENST00000319231.5_Missense_Mutation_p.G208R NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 203 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity p.G208R(2)|p.G203R(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 AGTTGGTCTCCAATTCCAGCC 0.403000 49 136 0 0 0.003610 0 0 SLC35E2B 728661 broad.mit.edu 37 1 1599899 1599899 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:1599899T>C ENST00000378662.1 - 9 1607 c.847A>G c.(847-849)Atc>Gtc p.I283V SLC35E2B_ENST00000234800.6_Missense_Mutation_p.I283V P0CK96 S352B_HUMAN solute carrier family 35, member E2B 283 integral to membrane p.I283V(2) kidney(1)|lung(1) 2 CTCCTCCCGATCACTGGGACG 0.542000 14 69 0 0 0.008871 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32915726 32915726 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr15:32915726C>G ENST00000361627.3 + 3 956 c.234C>G c.(232-234)gaC>gaG p.D78E ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000565905.1_5'UTR|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.D78E NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 78 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.D78E(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) CTTTAGAAGACCATATTCATA 0.373000 17 93 0 0 0.001523 0 0 PLEKHA3 65977 broad.mit.edu 37 2 179358664 179358664 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:179358664C>T ENST00000234453.4 + 4 800 c.398C>T c.(397-399)aCa>aTa p.T133I PLEKHA3_ENST00000461474.1_3'UTR NM_019091.3 NP_061964.3 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 133 cytoplasm|membrane p.T133I(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) CAAGTTCATACAATACAGGAA 0.403000 8 68 0 0 0.006214 0 0 SNHG14 104472715 broad.mit.edu 37 15 25485066 25485066 + RNA SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr15:25485066C>T ENST00000453082.2 + 0 1979 SNORD115-38_ENST00000365037.1_RNA NR_003343.1 CGCTGAGGCCCAGCCTAGGTG 0.512000 45 333 0 0 0.002522 0 0 RBM44 375316 broad.mit.edu 37 2 238729761 238729761 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:238729761T>C ENST00000316997.4 + 6 2096 c.1964T>C c.(1963-1965)cTg>cCg p.L655P RBM44_ENST00000409864.1_Missense_Mutation_p.L655P NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 654 nucleotide binding|RNA binding p.L655P(2) breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TCAGCACTACTGTCTCTTTTG 0.378000 16 30 0 0 0.004990 0 0 EPPK1 83481 broad.mit.edu 37 8 144940513 144940513 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr8:144940513G>A ENST00000525985.1 - 2 6980 c.6909C>T c.(6907-6909)gcC>gcT p.A2303A P58107 EPIPL_HUMAN epiplakin 1 2303 cytoplasm|cytoskeleton protein binding|structural molecule activity p.A2303A(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGGCGCGCTCGGCCGACAGCA 0.692000 22 241 0 0 0.001523 0 0 BOD1L1 259282 broad.mit.edu 37 4 13604663 13604663 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr4:13604663C>T ENST00000040738.5 - 10 3996 c.3861G>A c.(3859-3861)gtG>gtA p.V1287V NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1287 DNA binding p.V1287V(1) GCACAACAGTCACTGAACTTA 0.448000 17 37 0 0 0.004007 0 0 CCL8 6355 broad.mit.edu 37 17 32646553 32646553 + Silent SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr17:32646553G>T ENST00000394620.1 + 1 499 c.33G>T c.(31-33)ctG>ctT p.L11L NM_005623.2 NP_005614.2 P80075 CCL8_HUMAN chemokine (C-C motif) ligand 8 11 calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus extracellular space chemokine activity|heparin binding|signal transducer activity p.L11L(1) NS(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Ovarian(249;0.0443)|Breast(31;0.151) TGTGCCTGCTGCTCATGGCAG 0.512000 13 51 3.45872e-05 3.9694e-05 0.004007 1 0 SLITRK2 84631 broad.mit.edu 37 X 144904436 144904436 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:144904436C>T ENST00000370490.1 + 1 4748 c.493C>T c.(493-495)Ctg>Ttg p.L165L SLITRK2_ENST00000428560.2_Silent_p.L165L|SLITRK2_ENST00000447897.2_Silent_p.L165L|SLITRK2_ENST00000434188.2_Silent_p.L165L|SLITRK2_ENST00000413937.2_Silent_p.L165L Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 165 integral to membrane p.L165L(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) AGTGCTCATCCTGAATGACAA 0.502000 45 143 0 0 0.003214 0 0 SCN1A 6323 broad.mit.edu 37 2 166900385 166900385 + Nonsense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:166900385G>A ENST00000423058.2 - 11 1854 c.1837C>T c.(1837-1839)Cga>Tga p.R613* AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R613*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R613*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R613*|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 613 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R613*(2) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTCCGTGTCGTCGGGGCACA 0.542000 12 57 0 0 0.000978 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 37 0 0 0.000248 0 0 LTBP1 4052 broad.mit.edu 37 2 33359878 33359878 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:33359878G>A ENST00000404816.2 + 5 1405 c.1052G>A c.(1051-1053)cGc>cAc p.R351H LTBP1_ENST00000390003.4_Missense_Mutation_p.R25H|LTBP1_ENST00000407925.1_Missense_Mutation_p.R25H|LTBP1_ENST00000354476.3_Missense_Mutation_p.R351H|LTBP1_ENST00000418533.2_Missense_Mutation_p.R25H|LTBP1_ENST00000404525.1_Missense_Mutation_p.R25H|LTBP1_ENST00000402934.1_Missense_Mutation_p.R25H Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 351 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity p.R351H(1) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CACACTGGCCGCATCAAGGTG 0.478000 4 141 0 0 0.000602 0 0 INADL 10207 broad.mit.edu 37 1 62349930 62349930 + Missense_Mutation SNP A A G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:62349930A>G ENST00000371158.2 + 22 3095 c.2981A>G c.(2980-2982)cAa>cGa p.Q994R INADL_ENST00000316485.6_Missense_Mutation_p.Q994R NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 994 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding p.Q994R(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 AATGATGTCCAAGGTCCTAGC 0.458000 56 130 0 0 0.003610 0 0 KCNK2 3776 broad.mit.edu 37 1 215342563 215342563 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:215342563G>T ENST00000444842.2 + 4 647 c.497G>T c.(496-498)cGc>cTc p.R166L KCNK2_ENST00000391895.2_Missense_Mutation_p.R162L|KCNK2_ENST00000391894.2_Missense_Mutation_p.R151L NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 166 outward rectifier potassium channel activity p.R166L(1)|p.R151L(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) ATCTCACCACGCACAGAAGGC 0.368000 33 92 8.73648e-17 1.19515e-16 0.004289 1 0 TP53 7157 broad.mit.edu 37 17 7578536 7578536 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr17:7578536T>C ENST00000420246.2 - 5 526 c.394A>G c.(394-396)Aag>Gag p.K132E TP53_ENST00000455263.2_Missense_Mutation_p.K132E|TP53_ENST00000269305.4_Missense_Mutation_p.K132E|TP53_ENST00000413465.2_Missense_Mutation_p.K132E|TP53_ENST00000445888.2_Missense_Mutation_p.K132E|TP53_ENST00000359597.4_Missense_Mutation_p.K132E NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 132 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.K132E(20)|p.K132Q(13)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K132*(3)|p.N131fs*27(2)|p.K132fs*38(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.L130fs*16(1)|p.K132W(1)|p.K39E(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAAAACATCTTGTTGAGGGCA 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 15 0 0 0.004482 0 0 KLK7 5650 broad.mit.edu 37 19 51483661 51483661 + Missense_Mutation SNP G G C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:51483661G>C ENST00000391807.1 - 4 405 c.304C>G c.(304-306)Ccc>Gcc p.P102A KLK7_ENST00000595820.1_Missense_Mutation_p.P102A|KLK7_ENST00000597707.1_Missense_Mutation_p.P30A|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_5'UTR NM_139277.2 NP_644806.1 P49862 KLK7_HUMAN kallikrein-related peptidase 7 102 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity p.P102A(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) GAGTAGCCGGGGTGGCGGAAT 0.572000 17 22 0 0 0.004990 0 0 EXT2 2132 broad.mit.edu 37 11 44135768 44135768 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:44135768G>T ENST00000395673.3 + 4 815 c.759G>T c.(757-759)tgG>tgT p.W253C EXT2_ENST00000533608.1_Missense_Mutation_p.W220C|EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000358681.4_Missense_Mutation_p.W220C|EXT2_ENST00000343631.3_Missense_Mutation_p.W220C NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 220 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity p.W220C(2) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 TTTCTACGTGGACTTACCGGC 0.473000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 43 116 3.43241e-23 4.77189e-23 0.002222 1 0 SLITRK5 26050 broad.mit.edu 37 13 88328860 88328860 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr13:88328860C>T ENST00000325089.6 + 2 1436 c.1217C>T c.(1216-1218)cCc>cTc p.P406L SLITRK5_ENST00000400028.3_Missense_Mutation_p.P165L NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 406 LRRNT. integral to membrane p.P406L(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GAACTGCAGCCCAAGCCCTAC 0.567000 14 32 0 0 0.001855 0 0 OR10P1 121130 broad.mit.edu 37 12 56031203 56031203 + Silent SNP G G T rs147317388 byFrequency TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr12:56031203G>T ENST00000309675.2 + 1 560 c.528G>T c.(526-528)ccG>ccT p.P176P NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P176P(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 CGATCATCCCGCACTTTCTCT 0.562000 20 100 1.01871e-10 1.3197e-10 0.008871 1 0 CD37 951 broad.mit.edu 37 19 49843570 49843570 + Silent SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:49843570C>A ENST00000323906.4 + 8 972 c.831C>A c.(829-831)ctC>ctA p.L277L CD37_ENST00000426897.2_Silent_p.L209L NM_001774.2 NP_001765.1 P11049 CD37_HUMAN CD37 molecule 277 integral to membrane p.L277L(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 11 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) ACAACCGGCTCGCTCGATACC 0.577000 20 24 1.22574e-08 1.51885e-08 0.002299 1 0 LRRC66 339977 broad.mit.edu 37 4 52861067 52861067 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr4:52861067C>A ENST00000343457.3 - 4 2127 c.2121G>T c.(2119-2121)gaG>gaT p.E707D NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 707 integral to membrane p.E707_G708>DW(1) central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 ACAGAGACCCCTCATCAGAGT 0.527000 30 63 1.13719e-10 1.4621e-10 0.008361 1 0 ROBO4 54538 broad.mit.edu 37 11 124756661 124756661 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:124756661G>A ENST00000306534.3 - 16 2978 c.2493C>T c.(2491-2493)atC>atT p.I831I ROBO4_ENST00000533054.1_Silent_p.I686I|RP11-664I21.5_ENST00000524453.1_RNA NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 831 angiogenesis|cell differentiation integral to membrane receptor activity p.I831I(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TTGGGACGCTGATGTACCCAT 0.622000 26 43 0 0 0.005443 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220345342 220345342 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:220345342C>A ENST00000358951.2 - 23 2582 c.2466G>T c.(2464-2466)caG>caT p.Q822H NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 822 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity p.Q822H(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) TGCGCATCTGCTGCCACCATG 0.468000 20 41 1.33834e-09 1.67048e-09 0.007413 1 0 FIGN 55137 broad.mit.edu 37 2 164466086 164466086 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:164466086G>T ENST00000333129.3 - 3 2570 c.2256C>A c.(2254-2256)aaC>aaA p.N752K FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 752 nuclear matrix ATP binding|nucleoside-triphosphatase activity p.N752K(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CAAACATTTTGTTCCATTCAA 0.378000 8 62 0.000157383 0.000178229 0.003080 1 0 ATP7A 538 broad.mit.edu 37 X 77286941 77286941 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:77286941G>T ENST00000341514.6 + 16 3310 c.3155G>T c.(3154-3156)gGa>gTa p.G1052V ATP7A_ENST00000350425.4_Missense_Mutation_p.G55V|ATP7A_ENST00000343533.5_Missense_Mutation_p.G974V NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1052 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity p.G1052V(2) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 ATTACTCACGGAACCCCAGTG 0.378000 91 197 1.78623e-52 2.52434e-52 0.003610 1 0 KIAA1324 57535 broad.mit.edu 37 1 109707159 109707159 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:109707159G>T ENST00000369939.3 + 3 496 c.313G>T c.(313-315)Gac>Tac p.D105Y KIAA1324_ENST00000529753.1_Missense_Mutation_p.D105Y NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 105 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane p.D105Y(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GGATATGAAGGACCAGTCATG 0.587000 36 114 6.97489e-18 9.61859e-18 0.004878 1 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 81 0 0 0.003080 0 0 STK11 6794 broad.mit.edu 37 19 1220685 1220685 + Nonsense_Mutation SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:1220685A>T ENST00000326873.7 + 5 1876 c.703A>T c.(703-705)Aag>Tag p.K235* NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 235 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.K235*(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCGGCTTCAAGGTGGACAT 0.697000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 12 17 0 0 0.000978 0 0 ABHD12B 145447 broad.mit.edu 37 14 51352570 51352570 + Missense_Mutation SNP G G C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr14:51352570G>C ENST00000337334.2 + 7 634 c.619G>C c.(619-621)Ggc>Cgc p.G207R ABHD12B_ENST00000395752.1_Missense_Mutation_p.G100R|ABHD12B_ENST00000353130.1_Missense_Mutation_p.G130R|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B 207 hydrolase activity p.G207R(1)|p.G130R(1) breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) GGCAAGAAGTGGCATCACTCC 0.522000 47 124 0 0 0.003214 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726189 168726189 + Silent SNP C C A rs144099662 byFrequency TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:168726189C>A ENST00000305861.1 + 2 991 c.640C>A c.(640-642)Cgg>Agg p.R214R B3GALT1_ENST00000392690.2_Silent_p.R214R|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 214 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity p.R214R(1) cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 AGGACCGATTCGGGATGTCCG 0.438000 9 75 7.48243e-07 8.94752e-07 0.006214 1 0 KCNA6 3742 broad.mit.edu 37 12 4920464 4920464 + Silent SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr12:4920464A>T ENST00000433855.1 + 1 2123 c.1257A>T c.(1255-1257)acA>acT p.T419T KCNA6_ENST00000280684.3_Silent_p.T419T NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 419 voltage-gated potassium channel complex voltage-gated potassium channel activity p.T419T(1) NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CAGTGGTTACAATGACCACGG 0.587000 HNSCC(72;0.22) 21 79 0 0 0.001882 0 0 MED12 9968 broad.mit.edu 37 X 70354597 70354597 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:70354597G>A ENST00000333646.6 + 35 4961 c.4762G>A c.(4762-4764)Gtg>Atg p.V1588M MED12_ENST00000374102.1_Missense_Mutation_p.V1588M|MED12_ENST00000374080.3_Missense_Mutation_p.V1588M|MED12_ENST00000478889.1_Intron NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1588 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.V1588M(2) breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CATGCTGAGCGTGCTCATCAA 0.483000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 36 137 0 0 0.004289 0 0 COL13A1 1305 broad.mit.edu 37 10 71716763 71716763 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr10:71716763G>A ENST00000356340.3 + 38 2652 c.2116G>A c.(2116-2118)Gaa>Aaa p.706_706insK COL13A1_ENST00000520133.1_Missense_Mutation_p.599_599insK|COL13A1_ENST00000398966.3_Missense_Mutation_p.684_684insK|COL13A1_ENST00000398968.3_Missense_Mutation_p.687_687insK|COL13A1_ENST00000357811.3_Missense_Mutation_p.672_672insK|COL13A1_ENST00000398974.3_Missense_Mutation_p.694_694insK|COL13A1_ENST00000398978.3_Missense_Mutation_p.706_706insK|COL13A1_ENST00000522165.1_Missense_Mutation_p.675_675insK|COL13A1_ENST00000398972.3_Missense_Mutation_p.692_692insK|COL13A1_ENST00000520267.1_Missense_Mutation_p.634_634insK|COL13A1_ENST00000354547.3_Missense_Mutation_p.684_684insK|COL13A1_ENST00000398969.3_Missense_Mutation_p.634_634insK|COL13A1_ENST00000517713.1_Missense_Mutation_p.657_657insK|COL13A1_ENST00000398973.3_Missense_Mutation_p.680_680insK|COL13A1_ENST00000398971.3_Missense_Mutation_p.691_691insK|COL13A1_ENST00000398964.3_Missense_Mutation_p.677_677insK Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 0 Nonhelical region 4 (NC4). E -> Q (in Ref. 4; AAA52047/AAA52048 and 5; AAA51987/AAA51988/AAA51989/AAA51990/ AAA51991). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding p.E706K(1)|p.E689K(1) endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) CTTGCAGGGCGAAGATGGCTT 0.557000 14 36 0 0 0.004990 0 0 ARL5A 26225 broad.mit.edu 37 2 152663470 152663470 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:152663470C>G ENST00000295087.8 - 5 667 c.356G>C c.(355-357)gGa>gCa p.G119A ARL5A_ENST00000428992.2_Missense_Mutation_p.G82A NM_001037174.1|NM_012097.3 NP_001032251.1|NP_036229.1 Q9Y689 ARL5A_HUMAN ADP-ribosylation factor-like 5A 119 small GTPase mediated signal transduction intracellular GTP binding p.G119A(1) breast(1)|large_intestine(2)|liver(1)|lung(2) 6 BRCA - Breast invasive adenocarcinoma(221;0.153) AATCAGCAATCCAGCTTTTCT 0.318000 6 53 0 0 0.004482 0 0 BAI3 577 broad.mit.edu 37 6 69640468 69640468 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr6:69640468G>T ENST00000370598.1 + 4 1596 c.775G>T c.(775-777)Gat>Tat p.D259Y NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 259 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.D259Y(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AATGATGGGAGATCATACAAT 0.368000 9 23 2.74318e-10 3.47469e-10 0.006214 1 0 MAGEB6 158809 broad.mit.edu 37 X 26211971 26211971 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:26211971G>T ENST00000379034.1 + 2 157 c.8G>T c.(7-9)cGg>cTg p.R3L NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 3 p.R3L(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 ATCATGCCTCGGGGTCACAAG 0.572000 16 70 3.32936e-07 4.0093e-07 0.006122 1 0 RGPD4 285190 broad.mit.edu 37 2 108488692 108488692 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:108488692T>C ENST00000408999.3 + 20 4309 c.4232T>C c.(4231-4233)aTa>aCa p.I1411T RGPD4_ENST00000354986.4_Missense_Mutation_p.I1411T NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1411 RanBD1 2. intracellular transport binding p.I1411T(1) breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AATCACACAATAACTCCAGAC 0.358000 239 511 0 0 0.003610 0 0 CCDC113 29070 broad.mit.edu 37 16 58312467 58312467 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr16:58312467G>A ENST00000219299.4 + 8 1052 c.973G>A c.(973-975)Gtc>Atc p.V325I CCDC113_ENST00000443128.2_Missense_Mutation_p.V271I NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 325 protein complex p.V325I(1) large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 GATGACTTACGTCCGGGAGAA 0.587000 34 50 0 0 0.002836 0 0 PGR 5241 broad.mit.edu 37 11 100962496 100962496 + Missense_Mutation SNP A A C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:100962496A>C ENST00000325455.5 - 3 3354 c.1901T>G c.(1900-1902)cTt>cGt p.L634R PGR_ENST00000263463.5_Missense_Mutation_p.L634R|PGR_ENST00000534013.1_Missense_Mutation_p.L40R NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 634 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.L634R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) ATTACCTCCAAGGACCATGCC 0.363000 11 25 0 0 0.001855 0 0 CCBL1 883 broad.mit.edu 37 9 131605043 131605043 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr9:131605043C>T ENST00000436267.2 - 5 522 c.373G>A c.(373-375)Gtg>Atg p.V125M CCBL1_ENST00000302586.3_Missense_Mutation_p.V31M|CCBL1_ENST00000320665.6_Missense_Mutation_p.V31M|CCBL1_ENST00000483599.1_5'UTR Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic 31 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding p.V31M(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) CCCAAGTTCACGACGTCATGC 0.562000 21 23 0 0 0.002299 0 0 EPCAM 4072 broad.mit.edu 37 2 47606164 47606164 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:47606164G>A ENST00000263735.4 + 6 986 c.628G>A c.(628-630)Gct>Act p.A210T EPCAM_ENST00000405271.1_Missense_Mutation_p.A238T NM_002354.2 NP_002345.2 P16422 EPCAM_HUMAN epithelial cell adhesion molecule 210 positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding p.0?(2)|p.A210T(1)|p.?(1) endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1) 15 TGTGGACATAGCTGATGTGGC 0.294000 20 68 0 0 0.001882 0 0 NID2 22795 broad.mit.edu 37 14 52507564 52507564 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr14:52507564C>A ENST00000216286.5 - 8 1830 c.1831G>T c.(1831-1833)Gcc>Tcc p.A611S NID2_ENST00000541773.1_Missense_Mutation_p.A558S NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 611 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding p.A611S(1) NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TGGGTAAAGGCAGCACCTGGA 0.473000 23 89 3.62473e-10 4.55757e-10 0.001882 1 0 MIR891A 100126341 broad.mit.edu 37 X 145109318 145109318 + RNA SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:145109318G>A ENST00000401237.1 - 0 72 NR_030581.1 tatctcttttgaccctcacaa 0.438000 21 57 0 0 0.003330 0 0 RSL1D1 26156 broad.mit.edu 37 16 11931885 11931885 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr16:11931885G>A ENST00000571133.1 - 9 1304 c.1232C>T c.(1231-1233)cCa>cTa p.P411L RSL1D1_ENST00000542106.1_Missense_Mutation_p.P191L NM_015659.2 NP_056474.2 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 411 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome p.P411L(1) NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 15 ctcagatgctggcaaagcctt 0.448000 18 501 0 0 0.006122 0 0 GCA 25801 broad.mit.edu 37 2 163208879 163208879 + Missense_Mutation SNP G G C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:163208879G>C ENST00000437150.2 + 3 385 c.224G>C c.(223-225)aGa>aCa p.R75T GCA_ENST00000429691.2_Missense_Mutation_p.R56T|GCA_ENST00000473240.1_3'UTR|GCA_ENST00000233612.4_Missense_Mutation_p.R56T NM_012198.3 NP_036330.1 P28676 GRAN_HUMAN grancalcin, EF-hand calcium binding protein 75 EF-hand 1. cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity p.R75T(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 9 GAACTTCAGAGATGTTTGACA 0.299000 20 69 0 0 0.001882 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 79 0 0 0.003080 0 0 BRINP3 339479 broad.mit.edu 37 1 190068054 190068054 + Silent SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:190068054G>T ENST00000367462.3 - 8 1626 c.1395C>A c.(1393-1395)acC>acA p.T465T FAM5C_ENST00000534846.1_Silent_p.T363T|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 465 extracellular region p.T465T(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GCATGTAGCCGGTGTTGCAGG 0.597000 52 109 1.42923e-14 1.93967e-14 0.003610 1 0 AOX1 316 broad.mit.edu 37 2 201468820 201468820 + Splice_Site SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:201468820G>T ENST00000374700.2 + 8 910 c.669_splice c.e8+1 p.M223_splice NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 223 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity p.M223I(1) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CTGAGCTAATGGTGAGTAAAG 0.403000 19 33 2.94398e-08 3.59586e-08 0.007413 1 0 RASGRP1 10125 broad.mit.edu 37 15 38791143 38791143 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr15:38791143G>A ENST00000310803.5 - 15 1902 c.1725C>T c.(1723-1725)tgC>tgT p.C575C RASGRP1_ENST00000450598.2_Silent_p.C540C|RASGRP1_ENST00000559830.1_Silent_p.C540C|RASGRP1_ENST00000539159.1_Silent_p.C527C|RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000558164.1_Intron NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 575 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) AGTTCATCCCGCAGTCTGTGG 0.468000 5 331 0 0 0.001168 0 0 DIDO1 11083 broad.mit.edu 37 20 61541330 61541330 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr20:61541330G>A ENST00000266070.4 - 4 1207 c.882C>T c.(880-882)ggC>ggT p.G294G DIDO1_ENST00000370366.1_Silent_p.G294G|DIDO1_ENST00000395343.1_Silent_p.G294G|DIDO1_ENST00000370371.4_Silent_p.G294G|DIDO1_ENST00000370368.1_Silent_p.G294G|DIDO1_ENST00000354665.4_Silent_p.G294G|DIDO1_ENST00000395340.1_Silent_p.G294G|DIDO1_ENST00000395335.2_Silent_p.G294G|DIDO1_ENST00000266071.5_Silent_p.G294G NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 294 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.G294G(2) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CCACACAATCGCCATGAAACC 0.448000 23 35 0 0 0.003954 0 0 AGXT 189 broad.mit.edu 37 2 241812439 241812439 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:241812439G>A ENST00000307503.3 + 5 955 c.568G>A c.(568-570)Ggg>Agg p.G190R NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 190 G -> R (in HP1). glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity p.G190R(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ATCCCTGGGCGGGACCCCCCT 0.662000 13 84 0 0 0.003163 0 0 PARD6B 84612 broad.mit.edu 37 20 49366455 49366455 + Silent SNP A A G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr20:49366455A>G ENST00000371610.2 + 3 792 c.549A>G c.(547-549)ccA>ccG p.P183P PARD6B_ENST00000396039.1_Intron NM_032521.2 NP_115910.1 Q9BYG5 PAR6B_HUMAN par-6 family cell polarity regulator beta 183 Interaction with PARD3 and CDC42 (By similarity).|PDZ. axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly cytosol|tight junction protein binding p.P183P(1) NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1) 11 GGGTAACACCACATGGCTTAG 0.473000 22 41 0 0 0.001882 0 0 TPCN1 53373 broad.mit.edu 37 12 113710467 113710467 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr12:113710467C>T ENST00000550785.1 + 9 1138 c.969C>T c.(967-969)ttC>ttT p.F323F TPCN1_ENST00000335509.6_Silent_p.F251F|TPCN1_ENST00000392569.4_Silent_p.F183F|TPCN1_ENST00000541517.1_Silent_p.F323F NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 251 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity p.F251F(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 TTCTAGGTTTCTACTTGTTCT 0.468000 131 251 0 0 0.003610 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26199202 26199202 + Translation_Start_Site SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr6:26199202G>A ENST00000377831.5 - 0 319 HIST1H2AD_ENST00000341023.1_Silent_p.N90N NM_003530.3 NP_003521.2 P68431 H31_HUMAN histone cluster 1, H3d blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.N90N(1) NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6) 14 all_hematologic(11;0.196) GCTCCTCGTCGTTGCGGATGG 0.597000 24 132 0 0 0.005443 0 0 TH 7054 broad.mit.edu 37 11 2189322 2189322 + Splice_Site SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:2189322G>T ENST00000381178.1 - 5 686 c.669_splice c.e5+1 p.P223_splice TH_ENST00000381175.1_Splice_Site_p.P219_splice|TH_ENST00000352909.3_Splice_Site_p.P192_splice|TH_ENST00000333684.5_Splice_Site_p.P196_splice NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 223 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity p.P223Q(1) NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) ACCACTCACCGGGTGGTCCAA 0.597000 10 52 0.000442599 0.000497924 0.006214 1 0 FOLH1B 219595 broad.mit.edu 37 11 89392753 89392753 + RNA SNP A A C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:89392753A>C ENST00000532352.1 + 0 576 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTCTCTACTCAGACCCTGCTG 0.453000 3 77 0 0 0.000602 0 0 ZNF521 25925 broad.mit.edu 37 18 22804462 22804462 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr18:22804462G>A ENST00000361524.3 - 4 3568 c.3420C>T c.(3418-3420)tgC>tgT p.C1140C ZNF521_ENST00000584787.1_Silent_p.C920C|ZNF521_ENST00000538137.2_Silent_p.C1140C NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1140 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.S1141T(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGCAGCTAGAGCAGCGTGTCT 0.532000 T PAX5 ALL 26 44 0 0 0.003954 0 0 JAG2 3714 broad.mit.edu 37 14 105609331 105609331 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr14:105609331G>A ENST00000331782.3 - 26 3821 c.3418C>T c.(3418-3420)Cgg>Tgg p.R1140W JAG2_ENST00000347004.2_Missense_Mutation_p.R1102W NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 1140 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding p.R1140W(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CCCCCCGGCCGCTCAATGGGG 0.731000 15 24 0 0 0.004007 0 0 IGLV3-10 28803 broad.mit.edu 37 22 23154716 23154716 + RNA SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr22:23154716G>T ENST00000390315.2 + 0 320 CTATCAGTGGGGCCCAGGTGG 0.532000 14 41 1.5842e-08 1.94891e-08 0.001855 1 0 ZNF521 25925 broad.mit.edu 37 18 22804461 22804461 + Missense_Mutation SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr18:22804461A>T ENST00000361524.3 - 4 3569 c.3421T>A c.(3421-3423)Tct>Act p.S1141T ZNF521_ENST00000584787.1_Missense_Mutation_p.S921T|ZNF521_ENST00000538137.2_Missense_Mutation_p.S1141T NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1141 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.S1141T(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTGCAGCTAGAGCAGCGTGTC 0.532000 T PAX5 ALL 25 45 0 0 0.003330 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789746 6789746 + Missense_Mutation SNP G G C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:6789746G>C ENST00000338569.2 - 1 540 c.443C>G c.(442-444)tCc>tGc p.S148C NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S148C(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGGATCCAGGATGTGGCCAC 0.507000 12 56 0 0 0.001368 0 0 EPHA5 2044 broad.mit.edu 37 4 66201731 66201731 + Missense_Mutation SNP T T G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr4:66201731T>G ENST00000273854.3 - 16 3371 c.2771A>C c.(2770-2772)aAg>aCg p.K924T EPHA5_ENST00000432638.2_Missense_Mutation_p.K761T|EPHA5_ENST00000354839.4_Missense_Mutation_p.K902T|EPHA5_ENST00000511294.1_Missense_Mutation_p.K925T NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 924 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.K924T(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TTCATCAAACTTGGGCCTGCT 0.488000 TSP Lung(17;0.13) 14 76 0 0 0.002450 0 0 NUP88 4927 broad.mit.edu 37 17 5317415 5317415 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr17:5317415G>A ENST00000573584.1 - 3 1016 c.507C>T c.(505-507)acC>acT p.T169T NM_002532.4 NP_002523.2 Q99567 NUP88_HUMAN nucleoporin 88kDa 169 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity p.T169T(1) endometrium(4)|kidney(4)|large_intestine(4)|lung(3) 15 GAGTCAGAGAGGTGGAACTGG 0.368000 14 12 0 0 0.001855 0 0 RBM11 54033 broad.mit.edu 37 21 15596757 15596757 + Splice_Site SNP A A C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr21:15596757A>C ENST00000400577.3 + 4 341 c.e4-1 RBM11_ENST00000468643.1_Splice_Site NM_144770.3 NP_658983.3 P57052 RBM11_HUMAN RNA binding motif protein 11 nucleotide binding|RNA binding p.?(1) endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) ATCTCCTCAAAGGAATGAAGA 0.323000 2 1 0 0 0.004672 0 0 CSMD3 114788 broad.mit.edu 37 8 113694836 113694836 + Nonsense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr8:113694836C>A ENST00000297405.5 - 16 2756 c.2512G>T c.(2512-2514)Gga>Tga p.G838* CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G798*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G734*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G838* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 838 Sushi 4. integral to membrane|plasma membrane p.G838*(1)|p.G798*(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATTGGTATTCCAGGATCAGGG 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 68 1.17739e-12 1.74468e-12 0.005443 1 0 IGLV2-28 28812 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 15 0 0 0.000248 0 0 DIP2B 57609 broad.mit.edu 37 12 51065071 51065071 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr12:51065071G>A ENST00000301180.5 + 5 564 c.530G>A c.(529-531)cGt>cAt p.R177H NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 177 Ser-rich. nucleus catalytic activity|transcription factor binding p.R177H(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 TGGATCAACCGTTCAATTCAG 0.527000 17 112 0 0 0.004007 0 0 ACTR3B 57180 broad.mit.edu 37 7 152549330 152549330 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr7:152549330G>A ENST00000256001.8 + 10 1205 c.1071G>A c.(1069-1071)agG>agA p.R357R ACTR3B_ENST00000537264.1_Silent_p.R269R|ACTR3B_ENST00000397282.2_Silent_p.R269R|ACTR3B_ENST00000377776.3_Intron NM_020445.5 NP_065178.1 Q9P1U1 ARP3B_HUMAN ARP3 actin-related protein 3 homolog B (yeast) 357 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding p.R357R(1) breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 13 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) GCGGCGGGAGGATCAAGGTAG 0.637000 12 38 0 0 0.001368 0 0 DBT 1629 broad.mit.edu 37 1 100676288 100676288 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr1:100676288C>A ENST00000370132.3 - 8 992 c.979G>T c.(979-981)Gct>Tct p.A327S DBT_ENST00000370131.3_3'UTR NM_001918.3 NP_001909.3 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase E2 327 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding p.A327T(1)|p.A327S(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1) 19 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) TCCACAGAAGCGTTAAGGATA 0.338000 20 75 1.50039e-11 2.1836e-11 0.001882 1 0 HTR2C 3358 broad.mit.edu 37 X 113965913 113965913 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chrX:113965913G>T ENST00000276198.1 + 4 974 c.246G>T c.(244-246)aaG>aaT p.K82N HTR2C_ENST00000371951.1_Missense_Mutation_p.K82N|HTR2C_ENST00000371950.3_Missense_Mutation_p.K82N NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 82 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity p.K82N(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) GCATGGAAAAGAAACTGCACA 0.448000 4 118 2.56e-06 3.18534e-06 0.000248 1 0 GABRR1 2569 broad.mit.edu 37 6 89888768 89888768 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr6:89888768G>T ENST00000435811.1 - 9 1564 c.1110C>A c.(1108-1110)agC>agA p.S370R GABRR1_ENST00000454853.2_Missense_Mutation_p.S387R|GABRR1_ENST00000369451.3_Missense_Mutation_p.S300R NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 387 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.S381R(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) GAGGTAATCCGCTGGTGCAGG 0.542000 11 21 1.08611e-07 1.42771e-07 0.000978 1 0 ARHGAP11A 9824 broad.mit.edu 37 15 32915726 32915726 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr15:32915726C>G ENST00000361627.3 + 3 956 c.234C>G c.(232-234)gaC>gaG p.D78E ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.D78E|ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000565905.1_5'UTR NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 78 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.D78E(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) CTTTAGAAGACCATATTCATA 0.373000 17 93 0 0 0.001523 0 0 LRP1B 53353 broad.mit.edu 37 2 141709451 141709451 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:141709451G>T ENST00000389484.3 - 19 3917 c.2946C>A c.(2944-2946)agC>agA p.S982R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 982 LDL-receptor class A 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.S982R(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCCATTTGCTGCTAATGCATC 0.443000 TSP Lung(27;0.18) 20 31 7.92952e-12 1.16443e-11 0.003954 1 0 PCDHB18P 54660 broad.mit.edu 37 5 140616088 140616088 + RNA SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr5:140616088C>A ENST00000526308.1 + 0 2151 NR_001281.1 p.A601A(1) endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 CGCGCTCGGCCACCGCCACGC 0.716000 4 38 1.23904e-05 1.51852e-05 0.000602 1 0 PKD1L1 168507 broad.mit.edu 37 7 47894610 47894610 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr7:47894610C>A ENST00000289672.2 - 30 4779 c.4729G>T c.(4729-4731)Gta>Tta p.V1577L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1577 cell-cell adhesion integral to membrane p.V1577L(1) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CGAAGTAATACAAATGTCGTT 0.348000 18 60 5.01169e-05 6.00666e-05 0.004990 1 0 ZNF254 9534 broad.mit.edu 37 19 24310436 24310436 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr19:24310436C>G ENST00000357002.4 + 4 1749 c.1634C>G c.(1633-1635)cCc>cGc p.P545R ZNF254_ENST00000342944.6_Missense_Mutation_p.P460R NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 545 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P545R(1) all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) GAAGAGAAACCCTACAAATGT 0.363000 13 26 0 0 0.001368 0 0 TTN 7273 broad.mit.edu 37 2 179614601 179614601 + Missense_Mutation SNP T T A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:179614601T>A ENST00000360870.5 - 46 12748 c.12526A>T c.(12526-12528)Atc>Ttc p.I4176F TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3520 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAAGAATGATGGAATCCCCT 0.373000 22 45 0 0 0.001882 0 0 SNX24 28966 broad.mit.edu 37 5 122281813 122281813 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr5:122281813G>A ENST00000261369.4 + 3 393 c.208G>A c.(208-210)Gtc>Atc p.V70I SNX24_ENST00000395451.4_Missense_Mutation_p.V103I|SNX24_ENST00000513881.1_Missense_Mutation_p.V70I|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000506996.1_Missense_Mutation_p.V70I NM_014035.2 NP_054754.1 Q9Y343 SNX24_HUMAN sorting nexin 24 70 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding p.V70I(1) lung(5) 5 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) GGTCCCCAAAGTCTTGGAACA 0.323000 7 41 0 0 0.004482 0 0 UNC13C 440279 broad.mit.edu 37 15 54793103 54793103 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr15:54793103G>A ENST00000545554.1 + 21 5228 c.5228G>A c.(5227-5229)aGc>aAc p.S1743N UNC13C_ENST00000260323.11_Missense_Mutation_p.S1743N|UNC13C_ENST00000537900.1_Missense_Mutation_p.S1741N Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1743 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.S1743N(2) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTGAATCAGAGCTTTGAAATT 0.408000 13 100 0 0 0.002450 0 0 TCF4 6925 broad.mit.edu 37 18 52901847 52901847 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr18:52901847G>T ENST00000354452.3 - 16 2029 c.1418C>A c.(1417-1419)cCg>cAg p.P473Q TCF4_ENST00000561831.3_Missense_Mutation_p.P313Q|TCF4_ENST00000564403.2_Missense_Mutation_p.P479Q|TCF4_ENST00000457482.3_Missense_Mutation_p.P313Q|TCF4_ENST00000398339.1_Missense_Mutation_p.P575Q|TCF4_ENST00000568673.1_Missense_Mutation_p.P449Q|TCF4_ENST00000567880.1_Missense_Mutation_p.P413Q|TCF4_ENST00000537856.3_Missense_Mutation_p.P343Q|TCF4_ENST00000561992.1_Missense_Mutation_p.P343Q|TCF4_ENST00000544241.2_Missense_Mutation_p.P402Q|TCF4_ENST00000570287.2_Missense_Mutation_p.P313Q|TCF4_ENST00000568740.1_Missense_Mutation_p.P448Q|TCF4_ENST00000540999.1_Missense_Mutation_p.P449Q|TCF4_ENST00000537578.1_Missense_Mutation_p.P449Q|TCF4_ENST00000566279.1_Missense_Mutation_p.P413Q|TCF4_ENST00000356073.4_Missense_Mutation_p.P473Q|TCF4_ENST00000564228.1_Missense_Mutation_p.P402Q|TCF4_ENST00000570177.2_Missense_Mutation_p.P343Q|TCF4_ENST00000543082.1_Missense_Mutation_p.P431Q|TCF4_ENST00000566286.1_Missense_Mutation_p.P470Q|TCF4_ENST00000564999.1_Missense_Mutation_p.P473Q|TCF4_ENST00000565018.2_Missense_Mutation_p.P473Q NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 473 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding p.P575Q(1)|p.P473Q(1) breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) CTGTGGAACCGGAACCTGGTT 0.597000 OREG0024990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 60 1.01871e-10 1.45658e-10 0.008871 1 0 PCDHB7 56129 broad.mit.edu 37 5 140554370 140554370 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr5:140554370C>T ENST00000231137.3 + 1 2128 c.1954C>T c.(1954-1956)Cgc>Tgc p.R652C NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 652 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R652C(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGCCTCCGCGCTCGGCCAC 0.711000 7 38 0 0 0.008291 0 0 SLC41A1 254428 broad.mit.edu 37 1 205760707 205760707 + Missense_Mutation SNP T T A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr1:205760707T>A ENST00000367137.3 - 11 2510 c.1496A>T c.(1495-1497)cAt>cTt p.H499L SLC41A1_ENST00000468057.1_5'UTR NM_173854.4 NP_776253.3 Q8IVJ1 S41A1_HUMAN solute carrier family 41 (magnesium transporter), member 1 499 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity p.H499L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 17 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0252) CCAGAGAACATGGAAGCTGAG 0.552000 OREG0014162 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 37 0 0 0.000248 0 0 UBR4 23352 broad.mit.edu 37 1 19448475 19448475 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr1:19448475G>A ENST00000375267.2 - 67 9851 c.9848C>T c.(9847-9849)gCc>gTc p.A3283V UBR4_ENST00000375226.2_Missense_Mutation_p.A3259V|UBR4_ENST00000375254.3_Missense_Mutation_p.A3283V|UBR4_ENST00000375217.2_Missense_Mutation_p.A3276V Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3283 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding p.A3283V(1) breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCGCTGGGCGGCAATCTCTGC 0.478000 3 30 0 0 0.004672 0 0 POM121L12 285877 broad.mit.edu 37 7 53103855 53103855 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr7:53103855C>A ENST00000408890.4 + 1 507 c.491C>A c.(490-492)cCc>cAc p.P164H NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 164 p.P164H(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 gcaggccgccccgccgcccAG 0.731000 11 13 4.68919e-08 6.21413e-08 0.008291 1 0 GPR137B 7107 broad.mit.edu 37 1 236343183 236343183 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr1:236343183C>T ENST00000366592.3 + 4 783 c.692C>T c.(691-693)tCc>tTc p.S231F GPR137B_ENST00000366591.4_Missense_Mutation_p.S140F NM_003272.3 NP_003263.1 O60478 G137B_HUMAN G protein-coupled receptor 137B 231 integral to plasma membrane|membrane fraction p.S231F(1)|p.S140F(1) endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TTCCAGGGCTCCTCCGTGTGT 0.547000 59 151 0 0 0.003610 0 0 KCTD2 23510 broad.mit.edu 37 17 73045381 73045381 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr17:73045381C>T ENST00000322444.6 + 2 412 c.406C>T c.(406-408)Cgc>Tgc p.R136C KCTD2_ENST00000581589.1_5'UTR|KCTD2_ENST00000584767.1_3'UTR NM_015353.1 NP_056168.1 Q14681 KCTD2_HUMAN potassium channel tetramerization domain containing 2 136 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity p.R136C(1) kidney(1)|lung(2) 3 all_lung(278;0.226) CAACTACCTCCGCCACGGGAA 0.468000 8 84 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179432140 179432140 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:179432140C>A ENST00000589042.1 - 326 78943 c.78719G>T c.(78718-78720)tGt>tTt p.C26240F TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.C24599F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.C17300F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C17367F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C23672F|TTN_ENST00000460472.2_Missense_Mutation_p.C17175F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24599 Fibronectin type-III 91. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.C17367F(1)|p.C23672F(1)|p.C23670F(1)|p.C17175F(1)|p.C17300F(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTATTTCACATCTAGCAGA 0.388000 61 159 4.32865e-36 6.78432e-36 0.003610 1 0 USP7 7874 broad.mit.edu 37 16 8993490 8993490 + Missense_Mutation SNP T T A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr16:8993490T>A ENST00000344836.4 - 22 2632 c.2434A>T c.(2434-2436)Acg>Tcg p.T812S USP7_ENST00000535863.1_Missense_Mutation_p.T713S|USP7_ENST00000381886.4_Missense_Mutation_p.T796S NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 812 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.T812S(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 TTTGATAACGTAACCACAAAT 0.363000 37 79 0 0 0.005524 0 0 MN1 4330 broad.mit.edu 37 22 28194109 28194109 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr22:28194109C>G ENST00000302326.4 - 1 3377 c.2423G>C c.(2422-2424)gGc>gCc p.G808A NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 808 binding p.G808A(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GTTGAAGGAGCCCAGCGAGAG 0.677000 T ETV6 """AML, meningioma""" 22 39 0 0 0.001523 0 0 ZBTB24 9841 broad.mit.edu 37 6 109802316 109802316 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr6:109802316T>C ENST00000230122.3 - 2 1081 c.914A>G c.(913-915)tAc>tGc p.Y305C NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.Y305C(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) AAAGTGATTGTACTTAAAGAC 0.473000 46 103 0 0 0.003610 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48848037 48848037 + Silent SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:48848037G>T ENST00000394754.1 + 4 2295 c.2181G>T c.(2179-2181)cgG>cgT p.R727R GTF2A1L_ENST00000403751.3_Silent_p.R23R|STON1-GTF2A1L_ENST00000405008.1_Silent_p.R727R|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000394751.3_Silent_p.R727R|GTF2A1L_ENST00000430487.2_Intron|STON1-GTF2A1L_ENST00000402114.2_Silent_p.R727R|STON1-GTF2A1L_ENST00000309827.2_Silent_p.R727R NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 727 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex p.R727R(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AAGGAGTTCGGAATCTATTTG 0.289000 13 44 0.00316338 0.00360581 0.003163 1 0 PRDM2 7799 broad.mit.edu 37 1 14142945 14142945 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr1:14142945G>A ENST00000235372.7 + 9 5916 c.5060G>A c.(5059-5061)cGa>cAa p.R1687Q PRDM2_ENST00000503842.1_Missense_Mutation_p.D15N|PRDM2_ENST00000376048.5_Missense_Mutation_p.D179N|PRDM2_ENST00000505823.1_Missense_Mutation_p.D15N NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1687 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R1687Q(1) endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TTGGCGTCCCGATGCTCTCCA 0.587000 19 38 0 0 0.001882 0 0 STRC 161497 broad.mit.edu 37 15 43892287 43892287 + Nonsense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr15:43892287G>A ENST00000450892.2 - 28 5187 c.5110C>T c.(5110-5112)Caa>Taa p.Q1704* STRC_ENST00000541030.1_Nonsense_Mutation_p.Q931* NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1704 sensory perception of sound cell surface p.Q1704*(1) skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CTAGATAGTTGGATGGGACTA 0.557000 17 35 0 0 0.007413 0 0 PRB3 5544 broad.mit.edu 37 12 11420396 11420396 + RNA SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr12:11420396G>T ENST00000381842.3 - 0 698 PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding p.R221S(4) breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) TTTCCTGGACGAGGTGGGGGA 0.592000 114 332 7.48799e-53 1.19661e-52 0.003610 1 0 GPRASP2 114928 broad.mit.edu 37 X 101969872 101969872 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chrX:101969872G>A ENST00000543253.1 + 5 994 c.75G>A c.(73-75)ggG>ggA p.G25G GPRASP2_ENST00000332262.5_Silent_p.G25G|GPRASP2_ENST00000535209.1_Silent_p.G25G NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 p.G25G(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 TTATCGCTGGGCCTGAGAGAG 0.542000 46 100 0 0 0.002522 0 0 CHST12 55501 broad.mit.edu 37 7 2473023 2473023 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr7:2473023G>A ENST00000258711.6 + 2 884 c.749G>A c.(748-750)cGc>cAc p.R250H NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 250 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding p.R250H(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CCCTTCGTGCGCCTGATCTCC 0.602000 11 65 0 0 0.001368 0 0 PPRC1 23082 broad.mit.edu 37 10 103906777 103906777 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr10:103906777C>T ENST00000278070.2 + 9 4067 c.4028C>T c.(4027-4029)cCg>cTg p.P1343L PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.P310L NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding p.P1343L(1) central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GCTGCCCCTCCGCCCCCATGC 0.617000 6 18 0 0 0.001984 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 5 56 0 0 0.000602 0 0 KEAP1 9817 broad.mit.edu 37 19 10610285 10610285 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr19:10610285G>A ENST00000171111.5 - 2 972 c.425C>T c.(424-426)aCg>aTg p.T142M KEAP1_ENST00000393623.2_Missense_Mutation_p.T142M NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 142 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.T142M(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GATGGAGGCCGTGTAGGCGAA 0.587000 17 22 0 0 0.004990 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769002 31769002 + Nonsense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr19:31769002G>T ENST00000240587.4 - 2 2024 c.1697C>A c.(1696-1698)tCg>tAg p.S566* NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 566 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S566*(1)|p.S383*(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CTTCCCCGACGAGCCCAGGGA 0.587000 38 56 1.67305e-13 2.5019e-13 0.006230 1 0 LMBRD1 55788 broad.mit.edu 37 6 70411385 70411385 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr6:70411385C>T ENST00000370577.3 - 11 1262 c.1033G>A c.(1033-1035)Gga>Aga p.G345R LMBRD1_ENST00000370570.1_Missense_Mutation_p.G272R NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 345 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding p.G345R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 AGGTTAGCTCCAAAAATTATG 0.274000 15 28 0 0 0.004990 0 0 TPCN1 53373 broad.mit.edu 37 12 113710467 113710467 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr12:113710467C>T ENST00000550785.1 + 9 1138 c.969C>T c.(967-969)ttC>ttT p.F323F TPCN1_ENST00000392569.4_Silent_p.F183F|TPCN1_ENST00000541517.1_Silent_p.F323F|TPCN1_ENST00000335509.6_Silent_p.F251F NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 251 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity p.F251F(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 TTCTAGGTTTCTACTTGTTCT 0.468000 131 251 0 0 0.003610 0 0 AR 367 broad.mit.edu 37 X 66863200 66863200 + Silent SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chrX:66863200A>T ENST00000374690.3 + 2 2243 c.1719A>T c.(1717-1719)ggA>ggT p.G573G AR_ENST00000513847.1_3'UTR|AR_ENST00000396043.2_Silent_p.G41G|AR_ENST00000396044.3_Silent_p.G573G|AR_ENST00000504326.1_Silent_p.G573G NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 572 Interaction with HIPK3 (By similarity). A -> D (in AIS; defective DNA binding and transactivation). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.G573G(1)|p.G383G(1) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) GTCACTATGGAGCTCTCACAT 0.493000 Androgen Insensitivity Syndrome 21 57 0 0 0.001523 0 0 RP1L1 94137 broad.mit.edu 37 8 10470626 10470626 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr8:10470626G>A ENST00000382483.3 - 4 1205 c.982C>T c.(982-984)Cgc>Tgc p.R328C NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 328 intracellular signal transduction p.R328C(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGGTGGAAGCGGACTTTCATC 0.657000 31 52 0 0 0.001786 0 0 AMICA1 120425 broad.mit.edu 37 11 118081271 118081271 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr11:118081271G>A ENST00000292067.7 - 3 766 c.325C>T c.(325-327)Cgc>Tgc p.R109C AMICA1_ENST00000533261.1_Missense_Mutation_p.R119C|AMICA1_ENST00000356289.5_Missense_Mutation_p.R119C|AMICA1_ENST00000526620.1_Missense_Mutation_p.R80C NM_153206.2 NP_694938.2 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 1 119 Ig-like V-type 1. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane p.R109C(1) central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2) 20 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCTTTGAGGCGGATTTCACAG 0.522000 28 88 0 0 0.008361 0 0 PLXNA3 55558 broad.mit.edu 37 X 153696766 153696766 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chrX:153696766G>A ENST00000369682.3 + 23 4259 c.4084G>A c.(4084-4086)Ggc>Agc p.G1362S NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1362 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.G1362S(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCGCGACCGCGGCACCGTGGC 0.667000 6 34 0 0 0.001168 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45127332 45127332 + RNA SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr17:45127332G>A ENST00000575173.1 - 0 418 ACTCGCTCCCGCATGACCCAC 0.418000 5 216 0 0 0.001168 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 4 14 0 0 0.000602 0 0 LRRC66 339977 broad.mit.edu 37 4 52861066 52861066 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr4:52861066C>A ENST00000343457.3 - 4 2128 c.2122G>T c.(2122-2124)Ggg>Tgg p.G708W NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 708 integral to membrane p.E707_G708>DW(1) central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 AACAGAGACCCCTCATCAGAG 0.532000 31 61 1.80694e-10 2.53907e-10 0.001786 1 0 DDO 8528 broad.mit.edu 37 6 110714107 110714107 + Silent SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr6:110714107A>T ENST00000368924.3 - 5 996 c.981T>A c.(979-981)ccT>ccA p.P327P DDO_ENST00000368923.3_Silent_p.P268P|DDO_ENST00000368925.1_Silent_p.P299P NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 299 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity p.P327P(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) GGTGGACTACAGGCAGCCTCT 0.637000 28 35 0 0 0.004656 0 0 TPCN1 53373 broad.mit.edu 37 12 113717996 113717996 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr12:113717996C>T ENST00000550785.1 + 16 1723 c.1554C>T c.(1552-1554)ttC>ttT p.F518F TPCN1_ENST00000392569.4_Silent_p.F378F|TPCN1_ENST00000541517.1_Silent_p.F518F|TPCN1_ENST00000335509.6_Silent_p.F446F NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 446 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity p.F446F(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 TCCAGTATTTCATGTGTAAGT 0.423000 13 49 0 0 0.001855 0 0 XPO1 7514 broad.mit.edu 37 2 61721151 61721151 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:61721151G>T ENST00000401558.2 - 12 1850 c.1123C>A c.(1123-1125)Cat>Aat p.H375N XPO1_ENST00000404992.2_Missense_Mutation_p.H375N|XPO1_ENST00000406957.1_Missense_Mutation_p.H375N NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 (CRM1 homolog, yeast) 375 Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding p.H375N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) GCAGCCAAATGATTCCAGTAT 0.393000 Mis CLL 10 205 7.48243e-07 9.60343e-07 0.006214 1 0 CSPG4 1464 broad.mit.edu 37 15 75985532 75985532 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr15:75985532G>A ENST00000308508.5 - 2 223 c.131C>T c.(130-132)aCg>aTg p.T44M NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 44 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity p.T44M(1) breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GGTCAGAGCCGTGGCCACAGG 0.627000 7 17 0 0 0.001984 0 0 LSM14A 26065 broad.mit.edu 37 19 34712504 34712504 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr19:34712504G>A ENST00000544216.3 + 9 1306 c.1229G>A c.(1228-1230)aGa>aAa p.R410K LSM14A_ENST00000540746.2_Missense_Mutation_p.R369K|LSM14A_ENST00000433627.5_Missense_Mutation_p.R410K NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 410 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule p.R410K(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) GGGGGATACAGAGGCAGAGGA 0.537000 12 32 0 0 0.001855 0 0 KCNK10 54207 broad.mit.edu 37 14 88693778 88693778 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr14:88693778C>G ENST00000340700.5 - 4 1058 c.607G>C c.(607-609)Gga>Cga p.G203R KCNK10_ENST00000312350.5_Missense_Mutation_p.G208R|KCNK10_ENST00000319231.5_Missense_Mutation_p.G208R NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 203 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity p.G208R(2)|p.G203R(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 AGTTGGTCTCCAATTCCAGCC 0.403000 49 136 0 0 0.003610 0 0 MED12 9968 broad.mit.edu 37 X 70354597 70354597 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chrX:70354597G>A ENST00000333646.6 + 35 4961 c.4762G>A c.(4762-4764)Gtg>Atg p.V1588M MED12_ENST00000374080.3_Missense_Mutation_p.V1588M|MED12_ENST00000374102.1_Missense_Mutation_p.V1588M|MED12_ENST00000478889.1_Intron NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1588 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.V1588M(2) breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CATGCTGAGCGTGCTCATCAA 0.483000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 36 137 0 0 0.004289 0 0 PLEKHA3 65977 broad.mit.edu 37 2 179358664 179358664 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:179358664C>T ENST00000234453.4 + 4 800 c.398C>T c.(397-399)aCa>aTa p.T133I PLEKHA3_ENST00000461474.1_3'UTR NM_019091.3 NP_061964.3 Q9HB20 PKHA3_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 133 cytoplasm|membrane p.T133I(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865) CAAGTTCATACAATACAGGAA 0.403000 8 68 0 0 0.006214 0 0 SNHG14 104472715 broad.mit.edu 37 15 25485066 25485066 + RNA SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr15:25485066C>T ENST00000453082.2 + 0 1979 SNORD115-38_ENST00000365037.1_RNA NR_003343.1 CGCTGAGGCCCAGCCTAGGTG 0.512000 45 333 0 0 0.002522 0 0 RBM44 375316 broad.mit.edu 37 2 238729761 238729761 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:238729761T>C ENST00000316997.4 + 6 2096 c.1964T>C c.(1963-1965)cTg>cCg p.L655P RBM44_ENST00000409864.1_Missense_Mutation_p.L655P NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 654 nucleotide binding|RNA binding p.L655P(2) breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TCAGCACTACTGTCTCTTTTG 0.378000 16 30 0 0 0.004990 0 0 DYTN 391475 broad.mit.edu 37 2 207564875 207564875 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:207564875G>T ENST00000452335.2 - 6 665 c.549C>A c.(547-549)ttC>ttA p.F183L DYTN_ENST00000477734.1_5'UTR NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 183 plasma membrane zinc ion binding p.F183L(2) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TCACCCCTTGGAAACAGCTGC 0.493000 16 34 6.94344e-10 9.59137e-10 0.006122 1 0 ATP2C2 9914 broad.mit.edu 37 16 84486767 84486767 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr16:84486767G>A ENST00000416219.2 + 19 1944 c.1855G>A c.(1855-1857)Ggg>Agg p.G619R ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.G619R O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 619 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding p.G619R(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CCTGTGCAACGGGAAGCTGCA 0.672000 4 17 0 0 0.000248 0 0 BOD1L1 259282 broad.mit.edu 37 4 13604663 13604663 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr4:13604663C>T ENST00000040738.5 - 10 3996 c.3861G>A c.(3859-3861)gtG>gtA p.V1287V NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1287 DNA binding p.V1287V(1) GCACAACAGTCACTGAACTTA 0.448000 17 37 0 0 0.004007 0 0 TPCN1 53373 broad.mit.edu 37 12 113715147 113715147 + Nonsense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr12:113715147C>T ENST00000550785.1 + 13 1547 c.1378C>T c.(1378-1380)Cag>Tag p.Q460* TPCN1_ENST00000392569.4_Nonsense_Mutation_p.Q320*|TPCN1_ENST00000541517.1_Nonsense_Mutation_p.Q460*|TPCN1_ENST00000335509.6_Nonsense_Mutation_p.Q388* NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 388 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity p.Q388*(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 GGCCCTGAATCAGAACAACAC 0.577000 11 15 0 0 0.001368 0 0 CCL8 6355 broad.mit.edu 37 17 32646553 32646553 + Silent SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr17:32646553G>T ENST00000394620.1 + 1 499 c.33G>T c.(31-33)ctG>ctT p.L11L NM_005623.2 NP_005614.2 P80075 CCL8_HUMAN chemokine (C-C motif) ligand 8 11 calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus extracellular space chemokine activity|heparin binding|signal transducer activity p.L11L(1) NS(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Ovarian(249;0.0443)|Breast(31;0.151) TGTGCCTGCTGCTCATGGCAG 0.512000 13 51 3.45872e-05 4.20725e-05 0.004007 1 0 SCN1A 6323 broad.mit.edu 37 2 166900385 166900385 + Nonsense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:166900385G>A ENST00000423058.2 - 11 1854 c.1837C>T c.(1837-1839)Cga>Tga p.R613* SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R613*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R613*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R613*|AC010127.3_ENST00000599041.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 613 voltage-gated sodium channel complex voltage-gated sodium channel activity p.R613*(2) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TCTCCGTGTCGTCGGGGCACA 0.542000 12 57 0 0 0.000978 0 0 KCNK2 3776 broad.mit.edu 37 1 215342563 215342563 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr1:215342563G>T ENST00000444842.2 + 4 647 c.497G>T c.(496-498)cGc>cTc p.R166L KCNK2_ENST00000391894.2_Missense_Mutation_p.R151L|KCNK2_ENST00000391895.2_Missense_Mutation_p.R162L NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 166 outward rectifier potassium channel activity p.R166L(1)|p.R151L(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) ATCTCACCACGCACAGAAGGC 0.368000 33 92 8.73648e-17 1.33088e-16 0.004289 1 0 LTBP1 4052 broad.mit.edu 37 2 33359878 33359878 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:33359878G>A ENST00000404816.2 + 5 1405 c.1052G>A c.(1051-1053)cGc>cAc p.R351H LTBP1_ENST00000407925.1_Missense_Mutation_p.R25H|LTBP1_ENST00000390003.4_Missense_Mutation_p.R25H|LTBP1_ENST00000354476.3_Missense_Mutation_p.R351H|LTBP1_ENST00000418533.2_Missense_Mutation_p.R25H|LTBP1_ENST00000404525.1_Missense_Mutation_p.R25H|LTBP1_ENST00000402934.1_Missense_Mutation_p.R25H Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 351 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity p.R351H(1) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CACACTGGCCGCATCAAGGTG 0.478000 4 141 0 0 0.000602 0 0 INADL 10207 broad.mit.edu 37 1 62349930 62349930 + Missense_Mutation SNP A A G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr1:62349930A>G ENST00000371158.2 + 22 3095 c.2981A>G c.(2980-2982)cAa>cGa p.Q994R INADL_ENST00000316485.6_Missense_Mutation_p.Q994R NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 994 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding p.Q994R(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 AATGATGTCCAAGGTCCTAGC 0.458000 56 130 0 0 0.003610 0 0 KIAA1217 56243 broad.mit.edu 37 10 24820812 24820812 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr10:24820812C>A ENST00000376451.2 + 10 2445 c.2185C>A c.(2185-2187)Cct>Act p.P729T KIAA1217_ENST00000396445.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P729T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1011T|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P966T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1046T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1010T Q5T5P2 SKT_HUMAN KIAA1217 1046 embryonic skeletal system development cytoplasm p.P1046T(2) breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AAAGTCGCCCCCTCCTCCTCC 0.517000 15 20 2.23348e-06 2.80045e-06 0.004007 1 0 TP53 7157 broad.mit.edu 37 17 7578536 7578536 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr17:7578536T>C ENST00000420246.2 - 5 526 c.394A>G c.(394-396)Aag>Gag p.K132E TP53_ENST00000445888.2_Missense_Mutation_p.K132E|TP53_ENST00000455263.2_Missense_Mutation_p.K132E|TP53_ENST00000359597.4_Missense_Mutation_p.K132E|TP53_ENST00000269305.4_Missense_Mutation_p.K132E|TP53_ENST00000413465.2_Missense_Mutation_p.K132E NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 132 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.K132E(20)|p.K132Q(13)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K132*(3)|p.N131fs*27(2)|p.K132fs*38(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.L130fs*16(1)|p.K132W(1)|p.K39E(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAAAACATCTTGTTGAGGGCA 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 15 0 0 0.004482 0 0 KLK7 5650 broad.mit.edu 37 19 51483661 51483661 + Missense_Mutation SNP G G C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr19:51483661G>C ENST00000391807.1 - 4 405 c.304C>G c.(304-306)Ccc>Gcc p.P102A KLK7_ENST00000336317.4_5'UTR|KLK7_ENST00000597707.1_Missense_Mutation_p.P30A|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.P102A NM_139277.2 NP_644806.1 P49862 KLK7_HUMAN kallikrein-related peptidase 7 102 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity p.P102A(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) GAGTAGCCGGGGTGGCGGAAT 0.572000 17 22 0 0 0.004990 0 0 EXT2 2132 broad.mit.edu 37 11 44135768 44135768 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr11:44135768G>T ENST00000395673.3 + 4 815 c.759G>T c.(757-759)tgG>tgT p.W253C EXT2_ENST00000533608.1_Missense_Mutation_p.W220C|EXT2_ENST00000343631.3_Missense_Mutation_p.W220C|EXT2_ENST00000358681.4_Missense_Mutation_p.W220C|EXT2_ENST00000529186.1_3'UTR NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 220 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity p.W220C(2) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 TTTCTACGTGGACTTACCGGC 0.473000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 43 116 3.43241e-23 5.32842e-23 0.002222 1 0 SLITRK5 26050 broad.mit.edu 37 13 88328860 88328860 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr13:88328860C>T ENST00000325089.6 + 2 1436 c.1217C>T c.(1216-1218)cCc>cTc p.P406L SLITRK5_ENST00000400028.3_Missense_Mutation_p.P165L NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 406 LRRNT. integral to membrane p.P406L(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GAACTGCAGCCCAAGCCCTAC 0.567000 14 32 0 0 0.001855 0 0 OR10P1 121130 broad.mit.edu 37 12 56031203 56031203 + Silent SNP G G T rs147317388 byFrequency TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr12:56031203G>T ENST00000309675.2 + 1 560 c.528G>T c.(526-528)ccG>ccT p.P176P NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P176P(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 CGATCATCCCGCACTTTCTCT 0.562000 20 100 1.01871e-10 1.45658e-10 0.008871 1 0 CD37 951 broad.mit.edu 37 19 49843570 49843570 + Silent SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr19:49843570C>A ENST00000323906.4 + 8 972 c.831C>A c.(829-831)ctC>ctA p.L277L CD37_ENST00000426897.2_Silent_p.L209L NM_001774.2 NP_001765.1 P11049 CD37_HUMAN CD37 molecule 277 integral to membrane p.L277L(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 11 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) ACAACCGGCTCGCTCGATACC 0.577000 20 24 1.22574e-08 1.66496e-08 0.002299 1 0 LRRC66 339977 broad.mit.edu 37 4 52861067 52861067 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr4:52861067C>A ENST00000343457.3 - 4 2127 c.2121G>T c.(2119-2121)gaG>gaT p.E707D NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 707 integral to membrane p.E707_G708>DW(1) central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 ACAGAGACCCCTCATCAGAGT 0.527000 30 63 1.13719e-10 1.61184e-10 0.008361 1 0 IGLV2-28 28812 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 14 0.00024832 0.000291195 0.000248 1 0 ROBO4 54538 broad.mit.edu 37 11 124756661 124756661 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr11:124756661G>A ENST00000306534.3 - 16 2978 c.2493C>T c.(2491-2493)atC>atT p.I831I ROBO4_ENST00000533054.1_Silent_p.I686I|RP11-664I21.5_ENST00000524453.1_RNA NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 831 angiogenesis|cell differentiation integral to membrane receptor activity p.I831I(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TTGGGACGCTGATGTACCCAT 0.622000 26 43 0 0 0.005443 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220345342 220345342 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr1:220345342C>A ENST00000358951.2 - 23 2582 c.2466G>T c.(2464-2466)caG>caT p.Q822H NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 822 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity p.Q822H(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) TGCGCATCTGCTGCCACCATG 0.468000 20 41 1.33834e-09 1.83318e-09 0.007413 1 0 FIGN 55137 broad.mit.edu 37 2 164466086 164466086 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:164466086G>T ENST00000333129.3 - 3 2570 c.2256C>A c.(2254-2256)aaC>aaA p.N752K FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 752 nuclear matrix ATP binding|nucleoside-triphosphatase activity p.N752K(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CAAACATTTTGTTCCATTCAA 0.378000 8 62 0.000157383 0.000187252 0.003080 1 0 ATP7A 538 broad.mit.edu 37 X 77286941 77286941 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chrX:77286941G>T ENST00000341514.6 + 16 3310 c.3155G>T c.(3154-3156)gGa>gTa p.G1052V ATP7A_ENST00000343533.5_Missense_Mutation_p.G974V|ATP7A_ENST00000350425.4_Missense_Mutation_p.G55V NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1052 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity p.G1052V(2) breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 ATTACTCACGGAACCCCAGTG 0.378000 91 197 1.78623e-52 2.82675e-52 0.003610 1 0 KIAA1324 57535 broad.mit.edu 37 1 109707159 109707159 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr1:109707159G>T ENST00000369939.3 + 3 496 c.313G>T c.(313-315)Gac>Tac p.D105Y KIAA1324_ENST00000529753.1_Missense_Mutation_p.D105Y NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 105 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane p.D105Y(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GGATATGAAGGACCAGTCATG 0.587000 36 114 6.97489e-18 1.07255e-17 0.004878 1 0 STK11 6794 broad.mit.edu 37 19 1220685 1220685 + Nonsense_Mutation SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr19:1220685A>T ENST00000326873.7 + 5 1876 c.703A>T c.(703-705)Aag>Tag p.K235* NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 235 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.K235*(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCGGCTTCAAGGTGGACAT 0.697000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 12 17 0 0 0.000978 0 0 ABHD12B 145447 broad.mit.edu 37 14 51352570 51352570 + Missense_Mutation SNP G G C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr14:51352570G>C ENST00000337334.2 + 7 634 c.619G>C c.(619-621)Ggc>Cgc p.G207R ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000353130.1_Missense_Mutation_p.G130R|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Missense_Mutation_p.G100R NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B 207 hydrolase activity p.G207R(1)|p.G130R(1) breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) GGCAAGAAGTGGCATCACTCC 0.522000 47 124 0 0 0.003214 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726189 168726189 + Silent SNP C C A rs144099662 byFrequency TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:168726189C>A ENST00000305861.1 + 2 991 c.640C>A c.(640-642)Cgg>Agg p.R214R B3GALT1_ENST00000392690.2_Silent_p.R214R|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 214 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity p.R214R(1) cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 AGGACCGATTCGGGATGTCCG 0.438000 9 75 7.48243e-07 9.60343e-07 0.006214 1 0 KCNA6 3742 broad.mit.edu 37 12 4920464 4920464 + Silent SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr12:4920464A>T ENST00000433855.1 + 1 2123 c.1257A>T c.(1255-1257)acA>acT p.T419T KCNA6_ENST00000280684.3_Silent_p.T419T NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 419 voltage-gated potassium channel complex voltage-gated potassium channel activity p.T419T(1) NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CAGTGGTTACAATGACCACGG 0.587000 HNSCC(72;0.22) 21 79 0 0 0.001882 0 0 ZNF74 7625 broad.mit.edu 37 22 20760447 20760447 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr22:20760447T>C ENST00000400451.2 + 5 1638 c.1124T>C c.(1123-1125)cTc>cCc p.L375P ZNF74_ENST00000356671.5_Missense_Mutation_p.L375P|ZNF74_ENST00000405993.1_Missense_Mutation_p.L343P|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000403682.3_3'UTR NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 375 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding p.L375P(1) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CGTACACACCTCACACGCCAC 0.657000 3 57 0 0 0.004672 0 0 NPLOC4 55666 broad.mit.edu 37 17 79580446 79580446 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr17:79580446G>A ENST00000374747.5 - 4 413 c.284C>T c.(283-285)cCg>cTg p.P95L NPLOC4_ENST00000331134.6_Missense_Mutation_p.P95L|NPLOC4_ENST00000539314.1_5'UTR|NPLOC4_ENST00000574344.1_5'UTR Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 95 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding p.P95L(1) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TTTGAAGCCCGGTGGAACTGA 0.517000 33 29 0 0 0.003271 0 0 CCBL1 883 broad.mit.edu 37 9 131605043 131605043 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr9:131605043C>T ENST00000436267.2 - 5 522 c.373G>A c.(373-375)Gtg>Atg p.V125M CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.V31M|CCBL1_ENST00000320665.6_Missense_Mutation_p.V31M Q16773 KAT1_HUMAN cysteine conjugate-beta lyase, cytoplasmic 31 kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process cytosol|nucleus 1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding p.V31M(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114) CCCAAGTTCACGACGTCATGC 0.562000 21 23 0 0 0.002299 0 0 NUDT1 4521 broad.mit.edu 37 7 2289637 2289637 + Splice_Site SNP G G A rs115556911 by1000genomes TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr7:2289637G>A ENST00000397049.1 + 4 469 c.367_splice c.e4+1 p.E123_splice NUDT1_ENST00000339737.2_Splice_Site_p.E100_splice|NUDT1_ENST00000397046.1_Splice_Site_p.E100_splice|NUDT1_ENST00000356714.1_Splice_Site_p.E100_splice|NUDT1_ENST00000343985.4_Splice_Site_p.E123_splice|NUDT1_ENST00000397048.1_Splice_Site_p.E123_splice|NUDT1_ENST00000487426.1_3'UTR NM_198948.1|NM_198949.1 NP_945186.1|NP_945187.1 P36639 8ODP_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 1 141 Nudix hydrolase. DNA protection|DNA repair|response to oxidative stress cytoplasm 8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding p.E123K(1) large_intestine(3)|lung(8)|urinary_tract(1) 12 Ovarian(82;0.0253)|Melanoma(862;0.155) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15) GGAGAGCGACGGTGAGTCTCA 0.632000 Modulation of nucleotide pools 18 53 0 0 0.006122 0 0 COL13A1 1305 broad.mit.edu 37 10 71716763 71716763 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr10:71716763G>A ENST00000356340.3 + 38 2652 c.2116G>A c.(2116-2118)Gaa>Aaa p.706_706insK COL13A1_ENST00000398968.3_Missense_Mutation_p.687_687insK|COL13A1_ENST00000398978.3_Missense_Mutation_p.706_706insK|COL13A1_ENST00000398974.3_Missense_Mutation_p.694_694insK|COL13A1_ENST00000398973.3_Missense_Mutation_p.680_680insK|COL13A1_ENST00000398971.3_Missense_Mutation_p.691_691insK|COL13A1_ENST00000357811.3_Missense_Mutation_p.672_672insK|COL13A1_ENST00000398966.3_Missense_Mutation_p.684_684insK|COL13A1_ENST00000398972.3_Missense_Mutation_p.692_692insK|COL13A1_ENST00000517713.1_Missense_Mutation_p.657_657insK|COL13A1_ENST00000398964.3_Missense_Mutation_p.677_677insK|COL13A1_ENST00000520133.1_Missense_Mutation_p.599_599insK|COL13A1_ENST00000354547.3_Missense_Mutation_p.684_684insK|COL13A1_ENST00000520267.1_Missense_Mutation_p.634_634insK|COL13A1_ENST00000522165.1_Missense_Mutation_p.675_675insK|COL13A1_ENST00000398969.3_Missense_Mutation_p.634_634insK Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 0 Nonhelical region 4 (NC4). E -> Q (in Ref. 4; AAA52047/AAA52048 and 5; AAA51987/AAA51988/AAA51989/AAA51990/ AAA51991). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding p.E706K(1)|p.E689K(1) endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) CTTGCAGGGCGAAGATGGCTT 0.557000 14 36 0 0 0.004990 0 0 ARL5A 26225 broad.mit.edu 37 2 152663470 152663470 + Missense_Mutation SNP C C G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:152663470C>G ENST00000295087.8 - 5 667 c.356G>C c.(355-357)gGa>gCa p.G119A ARL5A_ENST00000428992.2_Missense_Mutation_p.G82A NM_001037174.1|NM_012097.3 NP_001032251.1|NP_036229.1 Q9Y689 ARL5A_HUMAN ADP-ribosylation factor-like 5A 119 small GTPase mediated signal transduction intracellular GTP binding p.G119A(1) breast(1)|large_intestine(2)|liver(1)|lung(2) 6 BRCA - Breast invasive adenocarcinoma(221;0.153) AATCAGCAATCCAGCTTTTCT 0.318000 6 53 0 0 0.004482 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904436 144904436 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chrX:144904436C>T ENST00000370490.1 + 1 4748 c.493C>T c.(493-495)Ctg>Ttg p.L165L SLITRK2_ENST00000434188.2_Silent_p.L165L|SLITRK2_ENST00000428560.2_Silent_p.L165L|SLITRK2_ENST00000447897.2_Silent_p.L165L|SLITRK2_ENST00000413937.2_Silent_p.L165L Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 165 integral to membrane p.L165L(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) AGTGCTCATCCTGAATGACAA 0.502000 45 143 0 0 0.003214 0 0 AFF2 2334 broad.mit.edu 37 X 147924509 147924509 + Missense_Mutation SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chrX:147924509C>T ENST00000370460.2 + 6 1672 c.1193C>T c.(1192-1194)cCa>cTa p.P398L AFF2_ENST00000370458.1_Missense_Mutation_p.P365L|AFF2_ENST00000286437.5_Missense_Mutation_p.P39L|AFF2_ENST00000342251.3_Missense_Mutation_p.P365L|AFF2_ENST00000370457.5_Missense_Mutation_p.P365L NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 398 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.P398L(2)|p.P39L(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CATCTGACCCCAGGATTCACC 0.348000 36 145 0 0 0.003271 0 0 MAGEB6 158809 broad.mit.edu 37 X 26211971 26211971 + Missense_Mutation SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chrX:26211971G>T ENST00000379034.1 + 2 157 c.8G>T c.(7-9)cGg>cTg p.R3L NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 3 p.R3L(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 ATCATGCCTCGGGGTCACAAG 0.572000 16 70 3.32936e-07 4.34148e-07 0.006122 1 0 RGPD4 285190 broad.mit.edu 37 2 108488692 108488692 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:108488692T>C ENST00000408999.3 + 20 4309 c.4232T>C c.(4231-4233)aTa>aCa p.I1411T RGPD4_ENST00000354986.4_Missense_Mutation_p.I1411T NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1411 RanBD1 2. intracellular transport binding p.I1411T(1) breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 AATCACACAATAACTCCAGAC 0.358000 239 511 0 0 0.003610 0 0 CCDC113 29070 broad.mit.edu 37 16 58312467 58312467 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr16:58312467G>A ENST00000219299.4 + 8 1052 c.973G>A c.(973-975)Gtc>Atc p.V325I CCDC113_ENST00000443128.2_Missense_Mutation_p.V271I NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 325 protein complex p.V325I(1) large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 GATGACTTACGTCCGGGAGAA 0.587000 34 50 0 0 0.002836 0 0 PGR 5241 broad.mit.edu 37 11 100962496 100962496 + Missense_Mutation SNP A A C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr11:100962496A>C ENST00000325455.5 - 3 3354 c.1901T>G c.(1900-1902)cTt>cGt p.L634R PGR_ENST00000263463.5_Missense_Mutation_p.L634R|PGR_ENST00000534013.1_Missense_Mutation_p.L40R NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 634 cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.L634R(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) ATTACCTCCAAGGACCATGCC 0.363000 11 25 0 0 0.001855 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26240191 26240191 + Splice_Site SNP C C A rs112694138 TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr7:26240191C>A ENST00000354667.4 - 1 175 c.e1+1 HNRNPA2B1_ENST00000356674.7_Splice_Site NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding p.?(2) HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 AAACCCGTTACCTCCATCGCG 0.607000 T ETV1 prostate 18 133 8.34094e-07 1.06217e-06 0.008871 1 0 EPCAM 4072 broad.mit.edu 37 2 47606164 47606164 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:47606164G>A ENST00000263735.4 + 6 986 c.628G>A c.(628-630)Gct>Act p.A210T EPCAM_ENST00000405271.1_Missense_Mutation_p.A238T NM_002354.2 NP_002345.2 P16422 EPCAM_HUMAN epithelial cell adhesion molecule 210 positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding p.0?(2)|p.A210T(1)|p.?(1) endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1) 15 TGTGGACATAGCTGATGTGGC 0.294000 20 68 0 0 0.001882 0 0 NID2 22795 broad.mit.edu 37 14 52507564 52507564 + Missense_Mutation SNP C C A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr14:52507564C>A ENST00000216286.5 - 8 1830 c.1831G>T c.(1831-1833)Gcc>Tcc p.A611S NID2_ENST00000541773.1_Missense_Mutation_p.A558S NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 611 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding p.A611S(1) NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TGGGTAAAGGCAGCACCTGGA 0.473000 23 89 3.62473e-10 5.04984e-10 0.001882 1 0 MIR891A 100126341 broad.mit.edu 37 X 145109318 145109318 + RNA SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chrX:145109318G>A ENST00000401237.1 - 0 72 NR_030581.1 tatctcttttgaccctcacaa 0.438000 21 57 0 0 0.003330 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 5 41 0 0 0.000602 0 0 RSL1D1 26156 broad.mit.edu 37 16 11931885 11931885 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr16:11931885G>A ENST00000571133.1 - 9 1304 c.1232C>T c.(1231-1233)cCa>cTa p.P411L RSL1D1_ENST00000542106.1_Missense_Mutation_p.P191L NM_015659.2 NP_056474.2 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 411 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome p.P411L(1) NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 15 ctcagatgctggcaaagcctt 0.448000 18 501 0 0 0.006122 0 0 GCA 25801 broad.mit.edu 37 2 163208879 163208879 + Missense_Mutation SNP G G C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:163208879G>C ENST00000437150.2 + 3 385 c.224G>C c.(223-225)aGa>aCa p.R75T GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Missense_Mutation_p.R56T|GCA_ENST00000233612.4_Missense_Mutation_p.R56T NM_012198.3 NP_036330.1 P28676 GRAN_HUMAN grancalcin, EF-hand calcium binding protein 75 EF-hand 1. cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity p.R75T(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1) 9 GAACTTCAGAGATGTTTGACA 0.299000 20 69 0 0 0.001882 0 0 FOXB1 27023 broad.mit.edu 37 15 60297987 60297987 + Silent SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr15:60297987G>T ENST00000396057.4 + 2 1304 c.825G>T c.(823-825)gcG>gcT p.A275A FOXB1_ENST00000560857.1_Intron NM_012182.2 NP_036314.2 Q99853 FOXB1_HUMAN forkhead box B1 275 axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.L275L(1)|p.A275A(1) central_nervous_system(1)|kidney(1)|lung(3)|ovary(1) 6 CGCTGCCTGCGCTGCCAGCGC 0.731000 5 11 0.00116845 0.00134124 0.001168 1 0 BRINP3 339479 broad.mit.edu 37 1 190068054 190068054 + Silent SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr1:190068054G>T ENST00000367462.3 - 8 1626 c.1395C>A c.(1393-1395)acC>acA p.T465T FAM5C_ENST00000534846.1_Silent_p.T363T|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 465 extracellular region p.T465T(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GCATGTAGCCGGTGTTGCAGG 0.597000 52 109 1.42923e-14 2.15707e-14 0.003610 1 0 AOX1 316 broad.mit.edu 37 2 201468820 201468820 + Splice_Site SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:201468820G>T ENST00000374700.2 + 8 910 c.669_splice c.e8+1 p.M223_splice NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 223 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity p.M223I(1) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CTGAGCTAATGGTGAGTAAAG 0.403000 19 33 2.94398e-08 3.93335e-08 0.007413 1 0 RASGRP1 10125 broad.mit.edu 37 15 38791143 38791143 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr15:38791143G>A ENST00000310803.5 - 15 1902 c.1725C>T c.(1723-1725)tgC>tgT p.C575C RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000559830.1_Silent_p.C540C|RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000450598.2_Silent_p.C540C|RASGRP1_ENST00000539159.1_Silent_p.C527C NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 575 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) AGTTCATCCCGCAGTCTGTGG 0.468000 5 331 0 0 0.001168 0 0 DIDO1 11083 broad.mit.edu 37 20 61541330 61541330 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr20:61541330G>A ENST00000266070.4 - 4 1207 c.882C>T c.(880-882)ggC>ggT p.G294G DIDO1_ENST00000395343.1_Silent_p.G294G|DIDO1_ENST00000266071.5_Silent_p.G294G|DIDO1_ENST00000395335.2_Silent_p.G294G|DIDO1_ENST00000395340.1_Silent_p.G294G|DIDO1_ENST00000370368.1_Silent_p.G294G|DIDO1_ENST00000370366.1_Silent_p.G294G|DIDO1_ENST00000370371.4_Silent_p.G294G|DIDO1_ENST00000354665.4_Silent_p.G294G NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 294 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.G294G(2) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CCACACAATCGCCATGAAACC 0.448000 23 35 0 0 0.003954 0 0 AGXT 189 broad.mit.edu 37 2 241812439 241812439 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:241812439G>A ENST00000307503.3 + 5 955 c.568G>A c.(568-570)Ggg>Agg p.G190R NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 190 G -> R (in HP1). glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity p.G190R(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ATCCCTGGGCGGGACCCCCCT 0.662000 13 84 0 0 0.003163 0 0 PARD6B 84612 broad.mit.edu 37 20 49366455 49366455 + Silent SNP A A G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr20:49366455A>G ENST00000371610.2 + 3 792 c.549A>G c.(547-549)ccA>ccG p.P183P PARD6B_ENST00000396039.1_Intron NM_032521.2 NP_115910.1 Q9BYG5 PAR6B_HUMAN par-6 family cell polarity regulator beta 183 Interaction with PARD3 and CDC42 (By similarity).|PDZ. axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly cytosol|tight junction protein binding p.P183P(1) NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1) 11 GGGTAACACCACATGGCTTAG 0.473000 22 41 0 0 0.001882 0 0 THNSL2 55258 broad.mit.edu 37 2 88485519 88485519 + Silent SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr2:88485519G>T ENST00000324166.5 + 8 3023 c.1332G>T c.(1330-1332)ctG>ctT p.L444L THNSL2_ENST00000358591.2_Silent_p.L444L|THNSL2_ENST00000343544.4_3'UTR|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_3'UTR|THNSL2_ENST00000449349.1_3'UTR NM_018271.4 NP_060741.3 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 (S. cerevisiae) 444 threonine biosynthetic process threonine synthase activity p.L444L(1) breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 TCGTAGCCCTGGAGCACAAGG 0.637000 4 16 0.00024832 0.000291195 0.000248 1 0 HIST1H3D 8351 broad.mit.edu 37 6 26199202 26199202 + Translation_Start_Site SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr6:26199202G>A ENST00000377831.5 - 0 319 HIST1H2AD_ENST00000341023.1_Silent_p.N90N NM_003530.3 NP_003521.2 P68431 H31_HUMAN histone cluster 1, H3d blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.N90N(1) NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6) 14 all_hematologic(11;0.196) GCTCCTCGTCGTTGCGGATGG 0.597000 24 132 0 0 0.005443 0 0 TH 7054 broad.mit.edu 37 11 2189322 2189322 + Splice_Site SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr11:2189322G>T ENST00000381178.1 - 5 686 c.669_splice c.e5+1 p.P223_splice TH_ENST00000352909.3_Splice_Site_p.P192_splice|TH_ENST00000333684.5_Splice_Site_p.P196_splice|TH_ENST00000381175.1_Splice_Site_p.P219_splice NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 223 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity p.P223Q(1) NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) ACCACTCACCGGGTGGTCCAA 0.597000 10 52 0.000442599 0.000515312 0.006214 1 0 TPCN1 53373 broad.mit.edu 37 12 113715134 113715134 + Silent SNP C C T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr12:113715134C>T ENST00000550785.1 + 13 1534 c.1365C>T c.(1363-1365)ttC>ttT p.F455F TPCN1_ENST00000392569.4_Silent_p.F315F|TPCN1_ENST00000541517.1_Silent_p.F455F|TPCN1_ENST00000335509.6_Silent_p.F383F NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 383 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity p.F383F(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 ATCTTACCTTCAAGGCCCTGA 0.582000 10 15 0 0 0.000978 0 0 ZNF521 25925 broad.mit.edu 37 18 22804462 22804462 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr18:22804462G>A ENST00000361524.3 - 4 3568 c.3420C>T c.(3418-3420)tgC>tgT p.C1140C ZNF521_ENST00000538137.2_Silent_p.C1140C|ZNF521_ENST00000584787.1_Silent_p.C920C NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1140 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.S1141T(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGCAGCTAGAGCAGCGTGTCT 0.532000 T PAX5 ALL 26 44 0 0 0.003954 0 0 C15orf60 283677 broad.mit.edu 37 15 73766253 73766253 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr15:73766253G>A ENST00000331090.6 + 2 268 c.240G>A c.(238-240)caG>caA p.Q80Q C15orf60_ENST00000560581.1_Silent_p.Q80Q NM_001042367.1 NP_001035826.1 Q7Z4M0 CO060_HUMAN chromosome 15 open reading frame 60 80 p.Q80Q(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2) 17 TCCAAGGACAGACACTACTGG 0.343000 11 12 0 0 0.000978 0 0 JAG2 3714 broad.mit.edu 37 14 105609331 105609331 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr14:105609331G>A ENST00000331782.3 - 26 3821 c.3418C>T c.(3418-3420)Cgg>Tgg p.R1140W JAG2_ENST00000347004.2_Missense_Mutation_p.R1102W NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 1140 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding p.R1140W(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CCCCCCGGCCGCTCAATGGGG 0.731000 15 24 0 0 0.004007 0 0 IGLV3-10 28803 broad.mit.edu 37 22 23154716 23154716 + RNA SNP G G T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr22:23154716G>T ENST00000390315.2 + 0 320 CTATCAGTGGGGCCCAGGTGG 0.532000 14 41 1.5842e-08 2.13409e-08 0.001855 1 0 ZNF521 25925 broad.mit.edu 37 18 22804461 22804461 + Missense_Mutation SNP A A T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr18:22804461A>T ENST00000361524.3 - 4 3569 c.3421T>A c.(3421-3423)Tct>Act p.S1141T ZNF521_ENST00000538137.2_Missense_Mutation_p.S1141T|ZNF521_ENST00000584787.1_Missense_Mutation_p.S921T NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1141 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.S1141T(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTGCAGCTAGAGCAGCGTGTC 0.532000 T PAX5 ALL 25 45 0 0 0.003330 0 0 OR2AG2 338755 broad.mit.edu 37 11 6789746 6789746 + Missense_Mutation SNP G G C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr11:6789746G>C ENST00000338569.2 - 1 540 c.443C>G c.(442-444)tCc>tGc p.S148C NM_001004490.1 NP_001004490.1 A6NM03 O2AG2_HUMAN olfactory receptor, family 2, subfamily AG, member 2 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S148C(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1) 28 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGGATCCAGGATGTGGCCAC 0.507000 12 56 0 0 0.001368 0 0 EPHA5 2044 broad.mit.edu 37 4 66201731 66201731 + Missense_Mutation SNP T T G TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr4:66201731T>G ENST00000273854.3 - 16 3371 c.2771A>C c.(2770-2772)aAg>aCg p.K924T EPHA5_ENST00000354839.4_Missense_Mutation_p.K902T|EPHA5_ENST00000432638.2_Missense_Mutation_p.K761T|EPHA5_ENST00000511294.1_Missense_Mutation_p.K925T NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 924 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.K924T(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TTCATCAAACTTGGGCCTGCT 0.488000 TSP Lung(17;0.13) 14 76 0 0 0.002450 0 0 NUP88 4927 broad.mit.edu 37 17 5317415 5317415 + Silent SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr17:5317415G>A ENST00000573584.1 - 3 1016 c.507C>T c.(505-507)acC>acT p.T169T NM_002532.4 NP_002523.2 Q99567 NUP88_HUMAN nucleoporin 88kDa 169 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore transporter activity p.T169T(1) endometrium(4)|kidney(4)|large_intestine(4)|lung(3) 15 GAGTCAGAGAGGTGGAACTGG 0.368000 14 12 0 0 0.001855 0 0 RIT1 6016 broad.mit.edu 37 1 155874531 155874532 + In_Frame_Ins INS - - GTATCCAAA TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr1:155874531_155874532insGTATCCAAA ENST00000368323.3 - 4 431_432 c.227_228insTTTGGATAC c.(226-228)agc>aTTTGGATACgc p.76_76S>IWIR RIT1_ENST00000539040.1_In_Frame_Ins_p.40_40S>IWIR|RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_In_Frame_Ins_p.93_93S>IWIR NM_006912.5 NP_008843.1 Q92963 RIT1_HUMAN Ras-like without CAAX 1 76 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1) 19 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) CCTGTCCAGCTGTATCCAAAAT 0.401 14 72 --- --- --- --- KLHL41 10324 broad.mit.edu 37 2 170366496 170366496 + Frame_Shift_Del DEL A A - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr2:170366496delA ENST00000284669.1 + 1 285 c.208delA c.(208-210)aafs p.K72fs BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TGATGAGGCGAAAAAAAAGGA 0.388 8 134 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 7 105 --- --- --- --- ATR 545 broad.mit.edu 37 3 142274739 142274740 + Frame_Shift_Ins INS - - T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr3:142274739_142274740insT ENST00000350721.4 - 10 2441_2442 c.2320_2321insA c.(2320-2322)accfs p.T774fs ATR_ENST00000383101.3_Frame_Shift_Ins_p.T710fs NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 774 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity p.I774fs*5(1) NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TGGACTAGGTATTTTTTTTTTC 0.332 Other conserved DNA damage response genes 10 125 --- --- --- --- UGDH 7358 broad.mit.edu 37 4 39515752 39515753 + Frame_Shift_Ins INS - - A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr4:39515752_39515753insA ENST00000316423.6 - 3 556_557 c.214_215insT c.(214-216)tacfs p.Y72fs UGDH_ENST00000515398.1_5'UTR|UGDH_ENST00000501493.2_Frame_Shift_Ins_p.Y72fs|UGDH_ENST00000507089.1_5'UTR|UGDH_ENST00000506179.1_Frame_Shift_Ins_p.Y72fs NM_001184701.1|NM_003359.3 NP_001171630.1|NP_003350.1 O60701 UGDH_HUMAN UDP-glucose 6-dehydrogenase 72 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity p.S72fs*18(1) breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2) 27 NADH(DB00157) AATATTGGTAGAAAAAAAAAGA 0.297 8 194 --- --- --- --- HLA-F 3134 broad.mit.edu 37 6 29694802 29694803 + Frame_Shift_Ins INS - - T rs17875385 TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr6:29694802_29694803insT ENST00000259951.7 + 7 1235_1236 c.1179_1180insT c.(1177-1182)ttttttfs p.FF393fs HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron NM_001098479.1 NP_001091949.1 P30511 HLAF_HUMAN major histocompatibility complex, class I, F 0 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 TGTGGATCTTGTTTTTTTTGTG 0.535 10 345 --- --- --- --- ABCF1 23 broad.mit.edu 37 6 30545854 30545854 + Splice_Site DEL A A - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr6:30545854delA ENST00000326195.8 + 4 330 c.216_splice c.e4-1 p.Q73_splice ABCF1_ENST00000396515.4_Splice_Site_p.Q73_splice|ABCF1_ENST00000376545.3_Splice_Site_p.Q73_splice NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 73 inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 TCTCAGCAGCAAAAAAAAAAG 0.493 10 81 --- --- --- --- PMS2CL 441194 broad.mit.edu 37 7 6759163 6759164 + RNA DEL AG AG - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr7:6759163_6759164delAG ENST00000486256.1 + 0 346 NR_002217.1 aaaaaaaaaaaGACCGTAGGAG 0.495 8 64 --- --- --- --- KCND2 3751 broad.mit.edu 37 7 120385968 120385969 + Frame_Shift_Ins INS - - A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr7:120385968_120385969insA ENST00000331113.4 + 5 2567_2568 c.1602_1603insA c.(1600-1605)caaaaafs p.QK534fs NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 534 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) CACGACGACACAAAAAAACTTT 0.450 11 119 --- --- --- --- RUFY2 55680 broad.mit.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr10:70156583delT ENST00000388768.2 - 4 783 c.457delA c.(457-459)tgfs p.M153fs RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 167 RUN. nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 TAATCGGCCATTTTTTTTTGC 0.398 8 86 --- --- --- --- ZDHHC13 54503 broad.mit.edu 37 11 19184974 19184974 + Splice_Site DEL G G - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:19184974delG ENST00000446113.2 + 11 1354 c.1233_splice c.e11+1 p.V411_splice ZDHHC13_ENST00000399351.3_Splice_Site_p.V281_splice NM_019028.2 NP_061901.2 Q8IUH4 ZDH13_HUMAN zinc finger, DHHC-type containing 13 411 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 AAAAGAAAGTGGTGAGATTTC 0.358 15 31 --- --- --- --- CHEK1 1111 broad.mit.edu 37 11 125505377 125505378 + Frame_Shift_Ins INS - - A rs35817404 TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr11:125505377_125505378insA ENST00000534070.1 + 7 922_923 c.667_668insA c.(667-669)aaafs p.K223fs CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 223 Protein kinase. E -> V (in dbSNP:rs35817404). cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGACTGGAAAGAAAAAAAAACA 0.361 Other conserved DNA damage response genes 7 134 --- --- --- --- OVOS2 144203 broad.mit.edu 37 12 31270080 31270081 + RNA INS - - AAA rs112314315 TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr12:31270080_31270081insAAA ENST00000542490.1 - 0 52 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CGTTAAACTGGATCTCACTGGA 0.505 8 20 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88328297 88328297 + Frame_Shift_Del DEL G G - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr13:88328297delG ENST00000325089.6 + 2 873 c.654delG c.(652-654)gtfs p.V218fs SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 218 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TGCCCTACGTGGGGCTCTTGC 0.483 36 58 --- --- --- --- JPH4 84502 broad.mit.edu 37 14 24040435 24040436 + Frame_Shift_Ins INS - - C rs144738828 byFrequency TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr14:24040435_24040436insC ENST00000397118.3 - 6 2406_2407 c.1504_1505insG c.(1504-1506)aggfs p.R502fs JPH4_ENST00000544177.1_Frame_Shift_Ins_p.R167fs|JPH4_ENST00000356300.4_Frame_Shift_Ins_p.R502fs NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 502 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane p.A502fs*12(2)|p.A502fs*8(1) endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) CTGTGCGCCTGCCCCCCCCCAC 0.688 8 177 --- --- --- --- ULK4P3 89837 broad.mit.edu 37 15 30406088 30406089 + RNA INS - - T TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr15:30406088_30406089insT ENST00000568486.1 + 0 402 NR_026859.1 TGCCTCAAAAGTTTTTTTTTTT 0.297 8 59 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29110406 29110406 + RNA DEL T T - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr16:29110406delT ENST00000564580.1 + 0 1098 TTAAAAAATCTTTTTTTTTTT 0.299 7 57 --- --- --- --- RP11-67H24.2 0 broad.mit.edu 37 16 32823636 32823637 + RNA INS - - C rs112857933 TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr16:32823636_32823637insC ENST00000569859.1 + 0 373 TTGCTGGAGTGGATGTGACAGG 0.495 7 102 --- --- --- --- CTC-559E9.6 0 broad.mit.edu 37 19 19944259 19944260 + RNA DEL GT GT - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:19944259_19944260delGT ENST00000591884.1 + 0 393 TGGTAAAAACGTGTGTGTGTGT 0.426 7 123 --- --- --- --- CTC-513N18.6 0 broad.mit.edu 37 19 20634038 20634039 + RNA DEL TG TG - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chr19:20634038_20634039delTG ENST00000598131.1 + 0 160 TTAGTAAAAATGTGTGTGTGTG 0.401 8 66 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 14 38 --- --- --- --- ARMCX3 51566 broad.mit.edu 37 X 100880216 100880216 + Frame_Shift_Del DEL G G - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:100880216delG ENST00000341189.4 + 5 1113 c.247delG c.(247-249)ggfs p.G83fs ARMCX3_ENST00000537169.1_Frame_Shift_Del_p.G83fs|ARMCX3_ENST00000471229.2_Frame_Shift_Del_p.G83fs NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 83 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 GGCTCGGATTGGGACTGAAGC 0.562 25 157 --- --- --- --- RP13-228J13.1 0 broad.mit.edu 37 X 154578866 154578866 + RNA DEL T T - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 84e9ba6c-a60a-48df-8176-1a06bda173f0 g.chrX:154578866delT ENST00000412436.1 - 0 98 RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA TTTCTCTCTGTTTTTTTTTTT 0.418 9 94 --- --- --- --- RIT1 6016 broad.mit.edu 37 1 155874531 155874532 + In_Frame_Ins INS - - GTATCCAAA TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr1:155874531_155874532insGTATCCAAA ENST00000368323.3 - 4 431_432 c.227_228insTTTGGATAC c.(226-228)agc>aTTTGGATACgc p.76_76S>IWIR RIT1_ENST00000368322.3_In_Frame_Ins_p.93_93S>IWIR|RIT1_ENST00000539040.1_In_Frame_Ins_p.40_40S>IWIR|RIT1_ENST00000461050.1_5'UTR NM_006912.5 NP_008843.1 Q92963 RIT1_HUMAN Ras-like without CAAX 1 76 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1) 19 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;1.79e-05) CCTGTCCAGCTGTATCCAAAAT 0.401 14 72 --- --- --- --- TMEM63A 9725 broad.mit.edu 37 1 226034840 226034842 + In_Frame_Del DEL CTG CTG - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr1:226034840_226034842delCTG ENST00000366835.3 - 24 2593_2595 c.2323_2325delCAG c.(2323-2325)del p.Q775del NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 775 integral to membrane|lysosomal membrane nucleotide binding p.Q775delQ(1) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CACCATAGGTCTGCTGCTGCTGC 0.626 7 116 --- --- --- --- MANEA 79694 broad.mit.edu 37 6 96034896 96034897 + Frame_Shift_Del DEL TG TG - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr6:96034896_96034897delTG ENST00000369293.1 + 2 715_716 c.581_582delTG c.(580-582)cfs p.L194fs MANEA_ENST00000358812.4_Intron Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 0 Catalytic (Probable). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) tgtttgtgtctgtatatatgca 0.282 3 6 --- --- --- --- INTS4P1 285905 broad.mit.edu 37 7 64639660 64639661 + RNA DEL TT TT - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr7:64639660_64639661delTT ENST00000587624.1 + 0 552 TCATTTGTTCTTTTTTCTAGAG 0.505 4 2 --- --- --- --- KCND2 3751 broad.mit.edu 37 7 120385968 120385969 + Frame_Shift_Ins INS - - A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr7:120385968_120385969insA ENST00000331113.4 + 5 2567_2568 c.1602_1603insA c.(1600-1605)caaaaafs p.QK534fs NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 534 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) CACGACGACACAAAAAAACTTT 0.450 11 119 --- --- --- --- ZDHHC13 54503 broad.mit.edu 37 11 19184974 19184974 + Splice_Site DEL G G - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr11:19184974delG ENST00000446113.2 + 11 1354 c.1233_splice c.e11+1 p.V411_splice ZDHHC13_ENST00000399351.3_Splice_Site_p.V281_splice NM_019028.2 NP_061901.2 Q8IUH4 ZDH13_HUMAN zinc finger, DHHC-type containing 13 411 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 AAAAGAAAGTGGTGAGATTTC 0.358 15 31 --- --- --- --- SLITRK5 26050 broad.mit.edu 37 13 88328297 88328297 + Frame_Shift_Del DEL G G - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr13:88328297delG ENST00000325089.6 + 2 873 c.654delG c.(652-654)gtfs p.V218fs SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 218 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TGCCCTACGTGGGGCTCTTGC 0.483 36 58 --- --- --- --- RP11-439I14.2 0 broad.mit.edu 37 16 64770704 64770705 + RNA INS - - CCAGTGATGGTCACCT rs140029302 by1000genomes TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chr16:64770704_64770705insCCAGTGATGGTCACCT ENST00000564293.1 + 0 453_454 TGTCACCACTGCCACCTTGTTC 0.371 4 7 --- --- --- --- ARMCX3 51566 broad.mit.edu 37 X 100880216 100880216 + Frame_Shift_Del DEL G G - TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6990a90-6a99-490b-a476-5298f0c4e4f2 5ae06c17-3991-4413-a4ea-19a8bd67b45a g.chrX:100880216delG ENST00000341189.4 + 5 1113 c.247delG c.(247-249)ggfs p.G83fs ARMCX3_ENST00000471229.2_Frame_Shift_Del_p.G83fs|ARMCX3_ENST00000537169.1_Frame_Shift_Del_p.G83fs NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 83 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 GGCTCGGATTGGGACTGAAGC 0.562 25 157 --- --- --- ---